SNP Links for Protein (Select 257470977) - SNP

Links from Protein

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Select item 14894822001.

rs1489482200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 3:4362199 (GRCh38)
3:4403883 (GRCh37)
Canonical SPDI:: NC_000003.12:4362198:G:C,NC_000003.12:4362198:G:T
Gene:: SUMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4362199G>C, NC_000003.12:g.4362199G>T, NC_000003.11:g.4403883G>C, NC_000003.11:g.4403883G>T, NG_016225.2:g.110084C>G, NG_016225.2:g.110084C>A, NM_182760.4:c.1070C>G, NM_182760.4:c.1070C>A, NM_182760.3:c.1070C>G, NM_182760.3:c.1070C>A, NM_001164675.2:c.1010C>G, NM_001164675.2:c.1010C>A, NM_001164675.1:c.1010C>G, NM_001164675.1:c.1010C>A, NM_001164674.2:c.995C>G, NM_001164674.2:c.995C>A, NM_001164674.1:c.995C>G, NM_001164674.1:c.995C>A, XM_047448025.1:c.935C>G, XM_047448025.1:c.935C>A, NP_877437.2:p.Ser357Cys, NP_877437.2:p.Ser357Tyr, NP_001158147.1:p.Ser337Cys, NP_001158147.1:p.Ser337Tyr, NP_001158146.1:p.Ser332Cys, NP_001158146.1:p.Ser332Tyr, XP_047303981.1:p.Ser312Cys, XP_047303981.1:p.Ser312Tyr

Select item 14894272602.

rs1489427260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:4467039 (GRCh38)
3:4508723 (GRCh37)
Canonical SPDI:: NC_000003.12:4467038:T:G
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4467039T>G, NC_000003.11:g.4508723T>G, NG_016225.2:g.5244A>C, NM_182760.4:c.207A>C, NM_182760.3:c.207A>C, NM_001164675.2:c.207A>C, NM_001164675.1:c.207A>C, NM_001164674.2:c.207A>C, NM_001164674.1:c.207A>C, XM_011533624.4:c.207A>C, XM_011533624.3:c.207A>C, XM_011533624.2:c.207A>C, XM_011533624.1:c.207A>C, XM_011533625.4:c.207A>C, XM_011533625.3:c.207A>C, XM_011533625.2:c.207A>C, XM_011533625.1:c.207A>C, XM_011533626.4:c.207A>C, XM_011533626.3:c.207A>C, XM_011533626.2:c.207A>C, XM_011533626.1:c.207A>C, XM_017006252.3:c.207A>C, XM_017006252.2:c.207A>C, XM_017006252.1:c.207A>C, XM_017006254.3:c.207A>C, XM_017006254.2:c.207A>C, XM_017006254.1:c.207A>C, XM_017006253.2:c.207A>C, XM_017006253.1:c.207A>C, XR_007095664.1:n.231A>C, XM_047448024.1:c.207A>C, XM_047448026.1:c.207A>C, XM_047448025.1:c.207A>C, XR_007095789.1:n.216T>G

Select item 14877229733.

rs1487722973 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4467223 (GRCh38)
3:4508907 (GRCh37)
Canonical SPDI:: NC_000003.12:4467222:A:G
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4467223A>G, NC_000003.11:g.4508907A>G, NG_016225.2:g.5060T>C, NM_182760.4:c.23T>C, NM_182760.3:c.23T>C, NM_001164675.2:c.23T>C, NM_001164675.1:c.23T>C, NM_001164674.2:c.23T>C, NM_001164674.1:c.23T>C, XM_011533624.4:c.23T>C, XM_011533624.3:c.23T>C, XM_011533624.2:c.23T>C, XM_011533624.1:c.23T>C, XM_011533625.4:c.23T>C, XM_011533625.3:c.23T>C, XM_011533625.2:c.23T>C, XM_011533625.1:c.23T>C, XM_011533626.4:c.23T>C, XM_011533626.3:c.23T>C, XM_011533626.2:c.23T>C, XM_011533626.1:c.23T>C, XM_017006252.3:c.23T>C, XM_017006252.2:c.23T>C, XM_017006252.1:c.23T>C, XM_017006254.3:c.23T>C, XM_017006254.2:c.23T>C, XM_017006254.1:c.23T>C, XM_017006253.2:c.23T>C, XM_017006253.1:c.23T>C, XR_007095664.1:n.47T>C, XM_047448024.1:c.23T>C, XM_047448026.1:c.23T>C, XM_047448025.1:c.23T>C, XR_007095789.1:n.400A>G, NP_877437.2:p.Leu8Pro, NP_001158147.1:p.Leu8Pro, NP_001158146.1:p.Leu8Pro, XP_011531926.1:p.Leu8Pro, XP_011531927.1:p.Leu8Pro, XP_011531928.1:p.Leu8Pro, XP_016861741.1:p.Leu8Pro, XP_016861743.1:p.Leu8Pro, XP_016861742.1:p.Leu8Pro, XP_047303980.1:p.Leu8Pro, XP_047303982.1:p.Leu8Pro, XP_047303981.1:p.Leu8Pro

Select item 14864884844.

rs1486488484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4418081 (GRCh38)
3:4459765 (GRCh37)
Canonical SPDI:: NC_000003.12:4418080:G:A
Gene:: SUMF1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4418081G>A, NC_000003.11:g.4459765G>A, NG_016225.2:g.54202C>T, NM_182760.4:c.654C>T, NM_182760.3:c.654C>T, NM_001164675.2:c.654C>T, NM_001164675.1:c.654C>T, NM_001164674.2:c.579C>T, NM_001164674.1:c.579C>T, XM_011533624.4:c.654C>T, XM_011533624.3:c.654C>T, XM_011533624.2:c.654C>T, XM_011533624.1:c.654C>T, XM_011533625.4:c.654C>T, XM_011533625.3:c.654C>T, XM_011533625.2:c.654C>T, XM_011533625.1:c.654C>T, XM_011533626.4:c.654C>T, XM_011533626.3:c.654C>T, XM_011533626.2:c.654C>T, XM_011533626.1:c.654C>T, XM_017006252.3:c.654C>T, XM_017006252.2:c.654C>T, XM_017006252.1:c.654C>T, XM_017006254.3:c.654C>T, XM_017006254.2:c.654C>T, XM_017006254.1:c.654C>T, XM_017006253.2:c.579C>T, XM_017006253.1:c.579C>T, XR_007095664.1:n.678C>T, XM_047448024.1:c.579C>T, XM_047448025.1:c.579C>T

Select item 14860208875.

rs1486020887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4467082 (GRCh38)
3:4508766 (GRCh37)
Canonical SPDI:: NC_000003.12:4467081:G:A
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.4467082G>A, NC_000003.11:g.4508766G>A, NG_016225.2:g.5201C>T, NM_182760.4:c.164C>T, NM_182760.3:c.164C>T, NM_001164675.2:c.164C>T, NM_001164675.1:c.164C>T, NM_001164674.2:c.164C>T, NM_001164674.1:c.164C>T, XM_011533624.4:c.164C>T, XM_011533624.3:c.164C>T, XM_011533624.2:c.164C>T, XM_011533624.1:c.164C>T, XM_011533625.4:c.164C>T, XM_011533625.3:c.164C>T, XM_011533625.2:c.164C>T, XM_011533625.1:c.164C>T, XM_011533626.4:c.164C>T, XM_011533626.3:c.164C>T, XM_011533626.2:c.164C>T, XM_011533626.1:c.164C>T, XM_017006252.3:c.164C>T, XM_017006252.2:c.164C>T, XM_017006252.1:c.164C>T, XM_017006254.3:c.164C>T, XM_017006254.2:c.164C>T, XM_017006254.1:c.164C>T, XM_017006253.2:c.164C>T, XM_017006253.1:c.164C>T, XR_007095664.1:n.188C>T, XM_047448024.1:c.164C>T, XM_047448026.1:c.164C>T, XM_047448025.1:c.164C>T, XR_007095789.1:n.259G>A, NP_877437.2:p.Pro55Leu, NP_001158147.1:p.Pro55Leu, NP_001158146.1:p.Pro55Leu, XP_011531926.1:p.Pro55Leu, XP_011531927.1:p.Pro55Leu, XP_011531928.1:p.Pro55Leu, XP_016861741.1:p.Pro55Leu, XP_016861743.1:p.Pro55Leu, XP_016861742.1:p.Pro55Leu, XP_047303980.1:p.Pro55Leu, XP_047303982.1:p.Pro55Leu, XP_047303981.1:p.Pro55Leu

Select item 14828754776.

rs1482875477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:4418085 (GRCh38)
3:4459769 (GRCh37)
Canonical SPDI:: NC_000003.12:4418084:T:C
Gene:: SUMF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.4418085T>C, NC_000003.11:g.4459769T>C, NG_016225.2:g.54198A>G, NM_182760.4:c.650A>G, NM_182760.3:c.650A>G, NM_001164675.2:c.650A>G, NM_001164675.1:c.650A>G, NM_001164674.2:c.575A>G, NM_001164674.1:c.575A>G, XM_011533624.4:c.650A>G, XM_011533624.3:c.650A>G, XM_011533624.2:c.650A>G, XM_011533624.1:c.650A>G, XM_011533625.4:c.650A>G, XM_011533625.3:c.650A>G, XM_011533625.2:c.650A>G, XM_011533625.1:c.650A>G, XM_011533626.4:c.650A>G, XM_011533626.3:c.650A>G, XM_011533626.2:c.650A>G, XM_011533626.1:c.650A>G, XM_017006252.3:c.650A>G, XM_017006252.2:c.650A>G, XM_017006252.1:c.650A>G, XM_017006254.3:c.650A>G, XM_017006254.2:c.650A>G, XM_017006254.1:c.650A>G, XM_017006253.2:c.575A>G, XM_017006253.1:c.575A>G, XR_007095664.1:n.674A>G, XM_047448024.1:c.575A>G, XM_047448025.1:c.575A>G, NP_877437.2:p.Tyr217Cys, NP_001158147.1:p.Tyr217Cys, NP_001158146.1:p.Tyr192Cys, XP_011531926.1:p.Tyr217Cys, XP_011531927.1:p.Tyr217Cys, XP_011531928.1:p.Tyr217Cys, XP_016861741.1:p.Tyr217Cys, XP_016861743.1:p.Tyr217Cys, XP_016861742.1:p.Tyr192Cys, XP_047303980.1:p.Tyr192Cys, XP_047303981.1:p.Tyr192Cys

Select item 14788277347.

rs1478827734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:4467011 (GRCh38)
3:4508695 (GRCh37)
Canonical SPDI:: NC_000003.12:4467010:G:A,NC_000003.12:4467010:G:T
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00014/2 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000003.12:g.4467011G>A, NC_000003.12:g.4467011G>T, NC_000003.11:g.4508695G>A, NC_000003.11:g.4508695G>T, NG_016225.2:g.5272C>T, NG_016225.2:g.5272C>A, NM_182760.4:c.235C>T, NM_182760.4:c.235C>A, NM_182760.3:c.235C>T, NM_182760.3:c.235C>A, NM_001164675.2:c.235C>T, NM_001164675.2:c.235C>A, NM_001164675.1:c.235C>T, NM_001164675.1:c.235C>A, NM_001164674.2:c.235C>T, NM_001164674.2:c.235C>A, NM_001164674.1:c.235C>T, NM_001164674.1:c.235C>A, XM_011533624.4:c.235C>T, XM_011533624.4:c.235C>A, XM_011533624.3:c.235C>T, XM_011533624.3:c.235C>A, XM_011533624.2:c.235C>T, XM_011533624.2:c.235C>A, XM_011533624.1:c.235C>T, XM_011533624.1:c.235C>A, XM_011533625.4:c.235C>T, XM_011533625.4:c.235C>A, XM_011533625.3:c.235C>T, XM_011533625.3:c.235C>A, XM_011533625.2:c.235C>T, XM_011533625.2:c.235C>A, XM_011533625.1:c.235C>T, XM_011533625.1:c.235C>A, XM_011533626.4:c.235C>T, XM_011533626.4:c.235C>A, XM_011533626.3:c.235C>T, XM_011533626.3:c.235C>A, XM_011533626.2:c.235C>T, XM_011533626.2:c.235C>A, XM_011533626.1:c.235C>T, XM_011533626.1:c.235C>A, XM_017006252.3:c.235C>T, XM_017006252.3:c.235C>A, XM_017006252.2:c.235C>T, XM_017006252.2:c.235C>A, XM_017006252.1:c.235C>T, XM_017006252.1:c.235C>A, XM_017006254.3:c.235C>T, XM_017006254.3:c.235C>A, XM_017006254.2:c.235C>T, XM_017006254.2:c.235C>A, XM_017006254.1:c.235C>T, XM_017006254.1:c.235C>A, XM_017006253.2:c.235C>T, XM_017006253.2:c.235C>A, XM_017006253.1:c.235C>T, XM_017006253.1:c.235C>A, XR_007095664.1:n.259C>T, XR_007095664.1:n.259C>A, XM_047448024.1:c.235C>T, XM_047448024.1:c.235C>A, XM_047448026.1:c.235C>T, XM_047448026.1:c.235C>A, XM_047448025.1:c.235C>T, XM_047448025.1:c.235C>A, XR_007095789.1:n.188G>A, XR_007095789.1:n.188G>T, NP_877437.2:p.Pro79Ser, NP_877437.2:p.Pro79Thr, NP_001158147.1:p.Pro79Ser, NP_001158147.1:p.Pro79Thr, NP_001158146.1:p.Pro79Ser, NP_001158146.1:p.Pro79Thr, XP_011531926.1:p.Pro79Ser, XP_011531926.1:p.Pro79Thr, XP_011531927.1:p.Pro79Ser, XP_011531927.1:p.Pro79Thr, XP_011531928.1:p.Pro79Ser, XP_011531928.1:p.Pro79Thr, XP_016861741.1:p.Pro79Ser, XP_016861741.1:p.Pro79Thr, XP_016861743.1:p.Pro79Ser, XP_016861743.1:p.Pro79Thr, XP_016861742.1:p.Pro79Ser, XP_016861742.1:p.Pro79Thr, XP_047303980.1:p.Pro79Ser, XP_047303980.1:p.Pro79Thr, XP_047303982.1:p.Pro79Ser, XP_047303982.1:p.Pro79Thr, XP_047303981.1:p.Pro79Ser, XP_047303981.1:p.Pro79Thr

Select item 14785709238.

rs1478570923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4417142 (GRCh38)
3:4458826 (GRCh37)
Canonical SPDI:: NC_000003.12:4417141:G:A
Gene:: SUMF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000003.12:g.4417142G>A, NC_000003.11:g.4458826G>A, NG_016225.2:g.55141C>T, NM_182760.4:c.826C>T, NM_182760.3:c.826C>T, NM_001164675.2:c.826C>T, NM_001164675.1:c.826C>T, NM_001164674.2:c.751C>T, NM_001164674.1:c.751C>T, XM_011533624.4:c.826C>T, XM_011533624.3:c.826C>T, XM_011533624.2:c.826C>T, XM_011533624.1:c.826C>T, XM_011533625.4:c.826C>T, XM_011533625.3:c.826C>T, XM_011533625.2:c.826C>T, XM_011533625.1:c.826C>T, XM_011533626.4:c.826C>T, XM_011533626.3:c.826C>T, XM_011533626.2:c.826C>T, XM_011533626.1:c.826C>T, XM_017006252.3:c.826C>T, XM_017006252.2:c.826C>T, XM_017006252.1:c.826C>T, XM_017006254.3:c.826C>T, XM_017006254.2:c.826C>T, XM_017006254.1:c.826C>T, XM_017006253.2:c.751C>T, XM_017006253.1:c.751C>T, XR_007095664.1:n.850C>T, XM_047448024.1:c.751C>T, XM_047448025.1:c.751C>T, NP_877437.2:p.Gln276Ter, NP_001158147.1:p.Gln276Ter, NP_001158146.1:p.Gln251Ter, XP_011531926.1:p.Gln276Ter, XP_011531927.1:p.Gln276Ter, XP_011531928.1:p.Gln276Ter, XP_016861741.1:p.Gln276Ter, XP_016861743.1:p.Gln276Ter, XP_016861742.1:p.Gln251Ter, XP_047303980.1:p.Gln251Ter, XP_047303981.1:p.Gln251Ter

Select item 14755959229.

rs1475595922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:4467047 (GRCh38)
3:4508731 (GRCh37)
Canonical SPDI:: NC_000003.12:4467046:C:T
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4467047C>T, NC_000003.11:g.4508731C>T, NG_016225.2:g.5236G>A, NM_182760.4:c.199G>A, NM_182760.3:c.199G>A, NM_001164675.2:c.199G>A, NM_001164675.1:c.199G>A, NM_001164674.2:c.199G>A, NM_001164674.1:c.199G>A, XM_011533624.4:c.199G>A, XM_011533624.3:c.199G>A, XM_011533624.2:c.199G>A, XM_011533624.1:c.199G>A, XM_011533625.4:c.199G>A, XM_011533625.3:c.199G>A, XM_011533625.2:c.199G>A, XM_011533625.1:c.199G>A, XM_011533626.4:c.199G>A, XM_011533626.3:c.199G>A, XM_011533626.2:c.199G>A, XM_011533626.1:c.199G>A, XM_017006252.3:c.199G>A, XM_017006252.2:c.199G>A, XM_017006252.1:c.199G>A, XM_017006254.3:c.199G>A, XM_017006254.2:c.199G>A, XM_017006254.1:c.199G>A, XM_017006253.2:c.199G>A, XM_017006253.1:c.199G>A, XR_007095664.1:n.223G>A, XM_047448024.1:c.199G>A, XM_047448026.1:c.199G>A, XM_047448025.1:c.199G>A, XR_007095789.1:n.224C>T, NP_877437.2:p.Ala67Thr, NP_001158147.1:p.Ala67Thr, NP_001158146.1:p.Ala67Thr, XP_011531926.1:p.Ala67Thr, XP_011531927.1:p.Ala67Thr, XP_011531928.1:p.Ala67Thr, XP_016861741.1:p.Ala67Thr, XP_016861743.1:p.Ala67Thr, XP_016861742.1:p.Ala67Thr, XP_047303980.1:p.Ala67Thr, XP_047303982.1:p.Ala67Thr, XP_047303981.1:p.Ala67Thr

Select item 147035025610.

rs1470350256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:4410949 (GRCh38)
3:4452633 (GRCh37)
Canonical SPDI:: NC_000003.12:4410948:G:C
Gene:: SUMF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.4410949G>C, NC_000003.11:g.4452633G>C, NG_016225.2:g.61334C>G, NM_182760.4:c.870C>G, NM_182760.3:c.870C>G, NM_001164675.2:c.870C>G, NM_001164675.1:c.870C>G, NM_001164674.2:c.795C>G, NM_001164674.1:c.795C>G, XM_011533624.4:c.870C>G, XM_011533624.3:c.870C>G, XM_011533624.2:c.870C>G, XM_011533624.1:c.870C>G, XM_011533625.4:c.870C>G, XM_011533625.3:c.870C>G, XM_011533625.2:c.870C>G, XM_011533625.1:c.870C>G, XM_011533626.4:c.870C>G, XM_011533626.3:c.870C>G, XM_011533626.2:c.870C>G, XM_011533626.1:c.870C>G, XM_017006252.3:c.870C>G, XM_017006252.2:c.870C>G, XM_017006252.1:c.870C>G, XM_017006254.3:c.870C>G, XM_017006254.2:c.870C>G, XM_017006254.1:c.870C>G, XM_017006253.2:c.795C>G, XM_017006253.1:c.795C>G, XR_007095664.1:n.894C>G, XM_047448024.1:c.795C>G, XM_047448025.1:c.795C>G

Select item 147020363411.

rs1470203634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:4418087 (GRCh38)
3:4459771 (GRCh37)
Canonical SPDI:: NC_000003.12:4418086:G:C
Gene:: SUMF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4418087G>C, NC_000003.11:g.4459771G>C, NG_016225.2:g.54196C>G, NM_182760.4:c.648C>G, NM_182760.3:c.648C>G, NM_001164675.2:c.648C>G, NM_001164675.1:c.648C>G, NM_001164674.2:c.573C>G, NM_001164674.1:c.573C>G, XM_011533624.4:c.648C>G, XM_011533624.3:c.648C>G, XM_011533624.2:c.648C>G, XM_011533624.1:c.648C>G, XM_011533625.4:c.648C>G, XM_011533625.3:c.648C>G, XM_011533625.2:c.648C>G, XM_011533625.1:c.648C>G, XM_011533626.4:c.648C>G, XM_011533626.3:c.648C>G, XM_011533626.2:c.648C>G, XM_011533626.1:c.648C>G, XM_017006252.3:c.648C>G, XM_017006252.2:c.648C>G, XM_017006252.1:c.648C>G, XM_017006254.3:c.648C>G, XM_017006254.2:c.648C>G, XM_017006254.1:c.648C>G, XM_017006253.2:c.573C>G, XM_017006253.1:c.573C>G, XR_007095664.1:n.672C>G, XM_047448024.1:c.573C>G, XM_047448025.1:c.573C>G

Select item 146935470012.

rs1469354700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:4418045 (GRCh38)
3:4459729 (GRCh37)
Canonical SPDI:: NC_000003.12:4418044:C:T
Gene:: SUMF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000003.12:g.4418045C>T, NC_000003.11:g.4459729C>T, NG_016225.2:g.54238G>A, NM_182760.4:c.690G>A, NM_182760.3:c.690G>A, NM_001164675.2:c.690G>A, NM_001164675.1:c.690G>A, NM_001164674.2:c.615G>A, NM_001164674.1:c.615G>A, XM_011533624.4:c.690G>A, XM_011533624.3:c.690G>A, XM_011533624.2:c.690G>A, XM_011533624.1:c.690G>A, XM_011533625.4:c.690G>A, XM_011533625.3:c.690G>A, XM_011533625.2:c.690G>A, XM_011533625.1:c.690G>A, XM_011533626.4:c.690G>A, XM_011533626.3:c.690G>A, XM_011533626.2:c.690G>A, XM_011533626.1:c.690G>A, XM_017006252.3:c.690G>A, XM_017006252.2:c.690G>A, XM_017006252.1:c.690G>A, XM_017006254.3:c.690G>A, XM_017006254.2:c.690G>A, XM_017006254.1:c.690G>A, XM_017006253.2:c.615G>A, XM_017006253.1:c.615G>A, XR_007095664.1:n.714G>A, XM_047448024.1:c.615G>A, XM_047448025.1:c.615G>A

Select item 146840468113.

rs1468404681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:4467052 (GRCh38)
3:4508736 (GRCh37)
Canonical SPDI:: NC_000003.12:4467051:G:A
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.4467052G>A, NC_000003.11:g.4508736G>A, NG_016225.2:g.5231C>T, NM_182760.4:c.194C>T, NM_182760.3:c.194C>T, NM_001164675.2:c.194C>T, NM_001164675.1:c.194C>T, NM_001164674.2:c.194C>T, NM_001164674.1:c.194C>T, XM_011533624.4:c.194C>T, XM_011533624.3:c.194C>T, XM_011533624.2:c.194C>T, XM_011533624.1:c.194C>T, XM_011533625.4:c.194C>T, XM_011533625.3:c.194C>T, XM_011533625.2:c.194C>T, XM_011533625.1:c.194C>T, XM_011533626.4:c.194C>T, XM_011533626.3:c.194C>T, XM_011533626.2:c.194C>T, XM_011533626.1:c.194C>T, XM_017006252.3:c.194C>T, XM_017006252.2:c.194C>T, XM_017006252.1:c.194C>T, XM_017006254.3:c.194C>T, XM_017006254.2:c.194C>T, XM_017006254.1:c.194C>T, XM_017006253.2:c.194C>T, XM_017006253.1:c.194C>T, XR_007095664.1:n.218C>T, XM_047448024.1:c.194C>T, XM_047448026.1:c.194C>T, XM_047448025.1:c.194C>T, XR_007095789.1:n.229G>A, NP_877437.2:p.Ala65Val, NP_001158147.1:p.Ala65Val, NP_001158146.1:p.Ala65Val, XP_011531926.1:p.Ala65Val, XP_011531927.1:p.Ala65Val, XP_011531928.1:p.Ala65Val, XP_016861741.1:p.Ala65Val, XP_016861743.1:p.Ala65Val, XP_016861742.1:p.Ala65Val, XP_047303980.1:p.Ala65Val, XP_047303982.1:p.Ala65Val, XP_047303981.1:p.Ala65Val

Select item 146316758614.

rs1463167586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:4410921 (GRCh38)
3:4452605 (GRCh37)
Canonical SPDI:: NC_000003.12:4410920:C:G
Gene:: SUMF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4410921C>G, NC_000003.11:g.4452605C>G, NG_016225.2:g.61362G>C, NM_182760.4:c.898G>C, NM_182760.3:c.898G>C, NM_001164675.2:c.898G>C, NM_001164675.1:c.898G>C, NM_001164674.2:c.823G>C, NM_001164674.1:c.823G>C, XM_011533624.4:c.898G>C, XM_011533624.3:c.898G>C, XM_011533624.2:c.898G>C, XM_011533624.1:c.898G>C, XM_011533625.4:c.898G>C, XM_011533625.3:c.898G>C, XM_011533625.2:c.898G>C, XM_011533625.1:c.898G>C, XM_011533626.4:c.898G>C, XM_011533626.3:c.898G>C, XM_011533626.2:c.898G>C, XM_011533626.1:c.898G>C, XM_017006252.3:c.898G>C, XM_017006252.2:c.898G>C, XM_017006252.1:c.898G>C, XM_017006254.3:c.898G>C, XM_017006254.2:c.898G>C, XM_017006254.1:c.898G>C, XM_017006253.2:c.823G>C, XM_017006253.1:c.823G>C, XR_007095664.1:n.922G>C, XM_047448024.1:c.823G>C, XM_047448025.1:c.823G>C, NP_877437.2:p.Glu300Gln, NP_001158147.1:p.Glu300Gln, NP_001158146.1:p.Glu275Gln, XP_011531926.1:p.Glu300Gln, XP_011531927.1:p.Glu300Gln, XP_011531928.1:p.Glu300Gln, XP_016861741.1:p.Glu300Gln, XP_016861743.1:p.Glu300Gln, XP_016861742.1:p.Glu275Gln, XP_047303980.1:p.Glu275Gln, XP_047303981.1:p.Glu275Gln

Select item 146027224315.

rs1460272243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:4467201 (GRCh38)
3:4508885 (GRCh37)
Canonical SPDI:: NC_000003.12:4467200:C:T
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.4467201C>T, NC_000003.11:g.4508885C>T, NG_016225.2:g.5082G>A, NM_182760.4:c.45G>A, NM_182760.3:c.45G>A, NM_001164675.2:c.45G>A, NM_001164675.1:c.45G>A, NM_001164674.2:c.45G>A, NM_001164674.1:c.45G>A, XM_011533624.4:c.45G>A, XM_011533624.3:c.45G>A, XM_011533624.2:c.45G>A, XM_011533624.1:c.45G>A, XM_011533625.4:c.45G>A, XM_011533625.3:c.45G>A, XM_011533625.2:c.45G>A, XM_011533625.1:c.45G>A, XM_011533626.4:c.45G>A, XM_011533626.3:c.45G>A, XM_011533626.2:c.45G>A, XM_011533626.1:c.45G>A, XM_017006252.3:c.45G>A, XM_017006252.2:c.45G>A, XM_017006252.1:c.45G>A, XM_017006254.3:c.45G>A, XM_017006254.2:c.45G>A, XM_017006254.1:c.45G>A, XM_017006253.2:c.45G>A, XM_017006253.1:c.45G>A, XR_007095664.1:n.69G>A, XM_047448024.1:c.45G>A, XM_047448026.1:c.45G>A, XM_047448025.1:c.45G>A, XR_007095789.1:n.378C>T

Select item 146018726716.

rs1460187267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:4467160 (GRCh38)
3:4508844 (GRCh37)
Canonical SPDI:: NC_000003.12:4467159:C:T
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.4467160C>T, NC_000003.11:g.4508844C>T, NG_016225.2:g.5123G>A, NM_182760.4:c.86G>A, NM_182760.3:c.86G>A, NM_001164675.2:c.86G>A, NM_001164675.1:c.86G>A, NM_001164674.2:c.86G>A, NM_001164674.1:c.86G>A, XM_011533624.4:c.86G>A, XM_011533624.3:c.86G>A, XM_011533624.2:c.86G>A, XM_011533624.1:c.86G>A, XM_011533625.4:c.86G>A, XM_011533625.3:c.86G>A, XM_011533625.2:c.86G>A, XM_011533625.1:c.86G>A, XM_011533626.4:c.86G>A, XM_011533626.3:c.86G>A, XM_011533626.2:c.86G>A, XM_011533626.1:c.86G>A, XM_017006252.3:c.86G>A, XM_017006252.2:c.86G>A, XM_017006252.1:c.86G>A, XM_017006254.3:c.86G>A, XM_017006254.2:c.86G>A, XM_017006254.1:c.86G>A, XM_017006253.2:c.86G>A, XM_017006253.1:c.86G>A, XR_007095664.1:n.110G>A, XM_047448024.1:c.86G>A, XM_047448026.1:c.86G>A, XM_047448025.1:c.86G>A, XR_007095789.1:n.337C>T, NP_877437.2:p.Cys29Tyr, NP_001158147.1:p.Cys29Tyr, NP_001158146.1:p.Cys29Tyr, XP_011531926.1:p.Cys29Tyr, XP_011531927.1:p.Cys29Tyr, XP_011531928.1:p.Cys29Tyr, XP_016861741.1:p.Cys29Tyr, XP_016861743.1:p.Cys29Tyr, XP_016861742.1:p.Cys29Tyr, XP_047303980.1:p.Cys29Tyr, XP_047303982.1:p.Cys29Tyr, XP_047303981.1:p.Cys29Tyr

Select item 145890427517.

rs1458904275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:4467128 (GRCh38)
3:4508812 (GRCh37)
Canonical SPDI:: NC_000003.12:4467127:C:G,NC_000003.12:4467127:C:T
Gene:: SUMF1 (Varview), LOC124909340 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.4467128C>G, NC_000003.12:g.4467128C>T, NC_000003.11:g.4508812C>G, NC_000003.11:g.4508812C>T, NG_016225.2:g.5155G>C, NG_016225.2:g.5155G>A, NM_182760.4:c.118G>C, NM_182760.4:c.118G>A, NM_182760.3:c.118G>C, NM_182760.3:c.118G>A, NM_001164675.2:c.118G>C, NM_001164675.2:c.118G>A, NM_001164675.1:c.118G>C, NM_001164675.1:c.118G>A, NM_001164674.2:c.118G>C, NM_001164674.2:c.118G>A, NM_001164674.1:c.118G>C, NM_001164674.1:c.118G>A, XM_011533624.4:c.118G>C, XM_011533624.4:c.118G>A, XM_011533624.3:c.118G>C, XM_011533624.3:c.118G>A, XM_011533624.2:c.118G>C, XM_011533624.2:c.118G>A, XM_011533624.1:c.118G>C, XM_011533624.1:c.118G>A, XM_011533625.4:c.118G>C, XM_011533625.4:c.118G>A, XM_011533625.3:c.118G>C, XM_011533625.3:c.118G>A, XM_011533625.2:c.118G>C, XM_011533625.2:c.118G>A, XM_011533625.1:c.118G>C, XM_011533625.1:c.118G>A, XM_011533626.4:c.118G>C, XM_011533626.4:c.118G>A, XM_011533626.3:c.118G>C, XM_011533626.3:c.118G>A, XM_011533626.2:c.118G>C, XM_011533626.2:c.118G>A, XM_011533626.1:c.118G>C, XM_011533626.1:c.118G>A, XM_017006252.3:c.118G>C, XM_017006252.3:c.118G>A, XM_017006252.2:c.118G>C, XM_017006252.2:c.118G>A, XM_017006252.1:c.118G>C, XM_017006252.1:c.118G>A, XM_017006254.3:c.118G>C, XM_017006254.3:c.118G>A, XM_017006254.2:c.118G>C, XM_017006254.2:c.118G>A, XM_017006254.1:c.118G>C, XM_017006254.1:c.118G>A, XM_017006253.2:c.118G>C, XM_017006253.2:c.118G>A, XM_017006253.1:c.118G>C, XM_017006253.1:c.118G>A, XR_007095664.1:n.142G>C, XR_007095664.1:n.142G>A, XM_047448024.1:c.118G>C, XM_047448024.1:c.118G>A, XM_047448026.1:c.118G>C, XM_047448026.1:c.118G>A, XM_047448025.1:c.118G>C, XM_047448025.1:c.118G>A, XR_007095789.1:n.305C>G, XR_007095789.1:n.305C>T, NP_877437.2:p.Gly40Arg, NP_877437.2:p.Gly40Ser, NP_001158147.1:p.Gly40Arg, NP_001158147.1:p.Gly40Ser, NP_001158146.1:p.Gly40Arg, NP_001158146.1:p.Gly40Ser, XP_011531926.1:p.Gly40Arg, XP_011531926.1:p.Gly40Ser, XP_011531927.1:p.Gly40Arg, XP_011531927.1:p.Gly40Ser, XP_011531928.1:p.Gly40Arg, XP_011531928.1:p.Gly40Ser, XP_016861741.1:p.Gly40Arg, XP_016861741.1:p.Gly40Ser, XP_016861743.1:p.Gly40Arg, XP_016861743.1:p.Gly40Ser, XP_016861742.1:p.Gly40Arg, XP_016861742.1:p.Gly40Ser, XP_047303980.1:p.Gly40Arg, XP_047303980.1:p.Gly40Ser, XP_047303982.1:p.Gly40Arg, XP_047303982.1:p.Gly40Ser, XP_047303981.1:p.Gly40Arg, XP_047303981.1:p.Gly40Ser

Select item 145457538918.

rs1454575389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4449301 (GRCh38)
3:4490985 (GRCh37)
Canonical SPDI:: NC_000003.12:4449300:A:G
Gene:: SUMF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.4449301A>G, NC_000003.11:g.4490985A>G, NG_016225.2:g.22982T>C, NM_182760.4:c.484T>C, NM_182760.3:c.484T>C, NM_001164675.2:c.484T>C, NM_001164675.1:c.484T>C, XM_011533624.4:c.484T>C, XM_011533624.3:c.484T>C, XM_011533624.2:c.484T>C, XM_011533624.1:c.484T>C, XM_011533625.4:c.484T>C, XM_011533625.3:c.484T>C, XM_011533625.2:c.484T>C, XM_011533625.1:c.484T>C, XM_011533626.4:c.484T>C, XM_011533626.3:c.484T>C, XM_011533626.2:c.484T>C, XM_011533626.1:c.484T>C, XM_017006252.3:c.484T>C, XM_017006252.2:c.484T>C, XM_017006252.1:c.484T>C, XM_017006254.3:c.484T>C, XM_017006254.2:c.484T>C, XM_017006254.1:c.484T>C, XR_007095664.1:n.508T>C, XM_047448026.1:c.484T>C

Select item 145288457119.

rs1452884571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:4417188 (GRCh38)
3:4458872 (GRCh37)
Canonical SPDI:: NC_000003.12:4417187:A:G
Gene:: SUMF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.4417188A>G, NC_000003.11:g.4458872A>G, NG_016225.2:g.55095T>C, NM_182760.4:c.780T>C, NM_182760.3:c.780T>C, NM_001164675.2:c.780T>C, NM_001164675.1:c.780T>C, NM_001164674.2:c.705T>C, NM_001164674.1:c.705T>C, XM_011533624.4:c.780T>C, XM_011533624.3:c.780T>C, XM_011533624.2:c.780T>C, XM_011533624.1:c.780T>C, XM_011533625.4:c.780T>C, XM_011533625.3:c.780T>C, XM_011533625.2:c.780T>C, XM_011533625.1:c.780T>C, XM_011533626.4:c.780T>C, XM_011533626.3:c.780T>C, XM_011533626.2:c.780T>C, XM_011533626.1:c.780T>C, XM_017006252.3:c.780T>C, XM_017006252.2:c.780T>C, XM_017006252.1:c.780T>C, XM_017006254.3:c.780T>C, XM_017006254.2:c.780T>C, XM_017006254.1:c.780T>C, XM_017006253.2:c.705T>C, XM_017006253.1:c.705T>C, XR_007095664.1:n.804T>C, XM_047448024.1:c.705T>C, XM_047448025.1:c.705T>C

Select item 144867809320.

rs1448678093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:4417193 (GRCh38)
3:4458877 (GRCh37)
Canonical SPDI:: NC_000003.12:4417192:T:C,NC_000003.12:4417192:T:G
Gene:: SUMF1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.4417193T>C, NC_000003.12:g.4417193T>G, NC_000003.11:g.4458877T>C, NC_000003.11:g.4458877T>G, NG_016225.2:g.55090A>G, NG_016225.2:g.55090A>C, NM_182760.4:c.775A>G, NM_182760.4:c.775A>C, NM_182760.3:c.775A>G, NM_182760.3:c.775A>C, NM_001164675.2:c.775A>G, NM_001164675.2:c.775A>C, NM_001164675.1:c.775A>G, NM_001164675.1:c.775A>C, NM_001164674.2:c.700A>G, NM_001164674.2:c.700A>C, NM_001164674.1:c.700A>G, NM_001164674.1:c.700A>C, XM_011533624.4:c.775A>G, XM_011533624.4:c.775A>C, XM_011533624.3:c.775A>G, XM_011533624.3:c.775A>C, XM_011533624.2:c.775A>G, XM_011533624.2:c.775A>C, XM_011533624.1:c.775A>G, XM_011533624.1:c.775A>C, XM_011533625.4:c.775A>G, XM_011533625.4:c.775A>C, XM_011533625.3:c.775A>G, XM_011533625.3:c.775A>C, XM_011533625.2:c.775A>G, XM_011533625.2:c.775A>C, XM_011533625.1:c.775A>G, XM_011533625.1:c.775A>C, XM_011533626.4:c.775A>G, XM_011533626.4:c.775A>C, XM_011533626.3:c.775A>G, XM_011533626.3:c.775A>C, XM_011533626.2:c.775A>G, XM_011533626.2:c.775A>C, XM_011533626.1:c.775A>G, XM_011533626.1:c.775A>C, XM_017006252.3:c.775A>G, XM_017006252.3:c.775A>C, XM_017006252.2:c.775A>G, XM_017006252.2:c.775A>C, XM_017006252.1:c.775A>G, XM_017006252.1:c.775A>C, XM_017006254.3:c.775A>G, XM_017006254.3:c.775A>C, XM_017006254.2:c.775A>G, XM_017006254.2:c.775A>C, XM_017006254.1:c.775A>G, XM_017006254.1:c.775A>C, XM_017006253.2:c.700A>G, XM_017006253.2:c.700A>C, XM_017006253.1:c.700A>G, XM_017006253.1:c.700A>C, XR_007095664.1:n.799A>G, XR_007095664.1:n.799A>C, XM_047448024.1:c.700A>G, XM_047448024.1:c.700A>C, XM_047448025.1:c.700A>G, XM_047448025.1:c.700A>C, NP_877437.2:p.Asn259Asp, NP_877437.2:p.Asn259His, NP_001158147.1:p.Asn259Asp, NP_001158147.1:p.Asn259His, NP_001158146.1:p.Asn234Asp, NP_001158146.1:p.Asn234His, XP_011531926.1:p.Asn259Asp, XP_011531926.1:p.Asn259His, XP_011531927.1:p.Asn259Asp, XP_011531927.1:p.Asn259His, XP_011531928.1:p.Asn259Asp, XP_011531928.1:p.Asn259His, XP_016861741.1:p.Asn259Asp, XP_016861741.1:p.Asn259His, XP_016861743.1:p.Asn259Asp, XP_016861743.1:p.Asn259His, XP_016861742.1:p.Asn234Asp, XP_016861742.1:p.Asn234His, XP_047303980.1:p.Asn234Asp, XP_047303980.1:p.Asn234His, XP_047303981.1:p.Asn234Asp, XP_047303981.1:p.Asn234His

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