SNP Links for Protein (Select 146094506) - SNP

Links from Protein

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Select item 14909360171.

rs1490936017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:37649433 (GRCh38)
4:37651055 (GRCh37)
Canonical SPDI:: NC_000004.12:37649432:C:G
Gene:: RELL1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37649433C>G, NC_000004.11:g.37651055C>G, NM_001085400.2:c.156G>C, NM_001085400.1:c.156G>C, NM_001085399.2:c.156G>C, NM_001085399.1:c.156G>C, XR_007057956.1:n.245G>C, XR_007057957.1:n.245G>C, XR_007057958.1:n.245G>C, XR_007057961.1:n.245G>C, XR_007057959.1:n.245G>C, XR_007057960.1:n.245G>C

Select item 14752136072.

rs1475213607 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:37631504 (GRCh38)
4:37633126 (GRCh37)
Canonical SPDI:: NC_000004.12:37631503:CC:C
Gene:: RELL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37631505del, NC_000004.11:g.37633127del, XM_017008590.3:c.319del, XM_017008590.2:c.319del, XM_017008590.1:c.319del, NM_001085400.2:c.700del, NM_001085400.1:c.700del, NM_001085399.2:c.700del, NM_001085399.1:c.700del, XR_007057956.1:n.789del, XR_007057957.1:n.789del, XR_007057958.1:n.789del, XR_007057961.1:n.789del, XR_007057959.1:n.789del, XR_007057960.1:n.789del, XP_016864079.1:p.Glu107fs, NP_001078869.1:p.Glu234fs, NP_001078868.1:p.Glu234fs

Select item 14681815583.

rs1468181558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:37686222 (GRCh38)
4:37687844 (GRCh37)
Canonical SPDI:: NC_000004.12:37686221:C:A
Gene:: RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.37686222C>A, NC_000004.11:g.37687844C>A, NM_001085400.2:c.66G>T, NM_001085400.1:c.66G>T, NM_001085399.2:c.66G>T, NM_001085399.1:c.66G>T, XR_007057956.1:n.155G>T, XR_007057957.1:n.155G>T, XR_007057958.1:n.155G>T, XR_007057961.1:n.155G>T, XR_007057959.1:n.155G>T, XR_007057960.1:n.155G>T

Select item 14615274394.

rs1461527439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:37634961 (GRCh38)
4:37636583 (GRCh37)
Canonical SPDI:: NC_000004.12:37634960:A:T
Gene:: RELL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37634961A>T, NC_000004.11:g.37636583A>T, XM_017008590.3:c.225T>A, XM_017008590.2:c.225T>A, XM_017008590.1:c.225T>A, NM_001085400.2:c.606T>A, NM_001085400.1:c.606T>A, NM_001085399.2:c.606T>A, NM_001085399.1:c.606T>A, XR_007057956.1:n.695T>A, XR_007057957.1:n.695T>A, XR_007057958.1:n.695T>A, XR_007057961.1:n.695T>A, XR_007057959.1:n.695T>A, XR_007057960.1:n.695T>A, XP_016864079.1:p.Phe75Leu, NP_001078869.1:p.Phe202Leu, NP_001078868.1:p.Phe202Leu

Select item 14560918685.

rs1456091868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:37649429 (GRCh38)
4:37651051 (GRCh37)
Canonical SPDI:: NC_000004.12:37649428:C:T
Gene:: RELL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37649429C>T, NC_000004.11:g.37651051C>T, NM_001085400.2:c.160G>A, NM_001085400.1:c.160G>A, NM_001085399.2:c.160G>A, NM_001085399.1:c.160G>A, XR_007057956.1:n.249G>A, XR_007057957.1:n.249G>A, XR_007057958.1:n.249G>A, XR_007057961.1:n.249G>A, XR_007057959.1:n.249G>A, XR_007057960.1:n.249G>A, NP_001078869.1:p.Gly54Arg, NP_001078868.1:p.Gly54Arg

Select item 14546970906.

rs1454697090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:37631499 (GRCh38)
4:37633121 (GRCh37)
Canonical SPDI:: NC_000004.12:37631498:G:A,NC_000004.12:37631498:G:C
Gene:: RELL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.37631499G>A, NC_000004.12:g.37631499G>C, NC_000004.11:g.37633121G>A, NC_000004.11:g.37633121G>C, XM_017008590.3:c.324C>T, XM_017008590.3:c.324C>G, XM_017008590.2:c.324C>T, XM_017008590.2:c.324C>G, XM_017008590.1:c.324C>T, XM_017008590.1:c.324C>G, NM_001085400.2:c.705C>T, NM_001085400.2:c.705C>G, NM_001085400.1:c.705C>T, NM_001085400.1:c.705C>G, NM_001085399.2:c.705C>T, NM_001085399.2:c.705C>G, NM_001085399.1:c.705C>T, NM_001085399.1:c.705C>G, XR_007057956.1:n.794C>T, XR_007057956.1:n.794C>G, XR_007057957.1:n.794C>T, XR_007057957.1:n.794C>G, XR_007057958.1:n.794C>T, XR_007057958.1:n.794C>G, XR_007057961.1:n.794C>T, XR_007057961.1:n.794C>G, XR_007057959.1:n.794C>T, XR_007057959.1:n.794C>G, XR_007057960.1:n.794C>T, XR_007057960.1:n.794C>G, XP_016864079.1:p.His108Gln, NP_001078869.1:p.His235Gln, NP_001078868.1:p.His235Gln

Select item 14545251257.

rs1454525125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:37649457 (GRCh38)
4:37651079 (GRCh37)
Canonical SPDI:: NC_000004.12:37649456:G:T
Gene:: RELL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
HGVS:: NC_000004.12:g.37649457G>T, NC_000004.11:g.37651079G>T, NM_001085400.2:c.132C>A, NM_001085400.1:c.132C>A, NM_001085399.2:c.132C>A, NM_001085399.1:c.132C>A, XR_007057956.1:n.221C>A, XR_007057957.1:n.221C>A, XR_007057958.1:n.221C>A, XR_007057961.1:n.221C>A, XR_007057959.1:n.221C>A, XR_007057960.1:n.221C>A

Select item 14509375948.

rs1450937594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:37647372 (GRCh38)
4:37648994 (GRCh37)
Canonical SPDI:: NC_000004.12:37647371:A:G
Gene:: RELL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37647372A>G, NC_000004.11:g.37648994A>G, NM_001085400.2:c.381T>C, NM_001085400.1:c.381T>C, NM_001085399.2:c.381T>C, NM_001085399.1:c.381T>C, XR_007057956.1:n.470T>C, XR_007057957.1:n.470T>C, XR_007057958.1:n.470T>C, XR_007057961.1:n.470T>C, XR_007057959.1:n.470T>C, XR_007057960.1:n.470T>C

Select item 14396017289.

rs1439601728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:37638467 (GRCh38)
4:37640089 (GRCh37)
Canonical SPDI:: NC_000004.12:37638466:G:A
Gene:: RELL1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37638467G>A, NC_000004.11:g.37640089G>A, XM_017008590.3:c.42C>T, XM_017008590.2:c.42C>T, XM_017008590.1:c.42C>T, NM_001085400.2:c.423C>T, NM_001085400.1:c.423C>T, NM_001085399.2:c.423C>T, NM_001085399.1:c.423C>T, XR_007057956.1:n.512C>T, XR_007057957.1:n.512C>T, XR_007057958.1:n.512C>T, XR_007057961.1:n.512C>T, XR_007057959.1:n.512C>T, XR_007057960.1:n.512C>T

Select item 143596473410.

rs1435964734 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:37686241 (GRCh38)
4:37687863 (GRCh37)
Canonical SPDI:: NC_000004.12:37686240:A:G
Gene:: RELL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.37686241A>G, NC_000004.11:g.37687863A>G, NM_001085400.2:c.47T>C, NM_001085400.1:c.47T>C, NM_001085399.2:c.47T>C, NM_001085399.1:c.47T>C, XR_007057956.1:n.136T>C, XR_007057957.1:n.136T>C, XR_007057958.1:n.136T>C, XR_007057961.1:n.136T>C, XR_007057959.1:n.136T>C, XR_007057960.1:n.136T>C, NP_001078869.1:p.Val16Ala, NP_001078868.1:p.Val16Ala

Select item 142821241411.

rs1428212414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:37686229 (GRCh38)
4:37687851 (GRCh37)
Canonical SPDI:: NC_000004.12:37686228:C:A,NC_000004.12:37686228:C:T
Gene:: RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37686229C>A, NC_000004.12:g.37686229C>T, NC_000004.11:g.37687851C>A, NC_000004.11:g.37687851C>T, NM_001085400.2:c.59G>T, NM_001085400.2:c.59G>A, NM_001085400.1:c.59G>T, NM_001085400.1:c.59G>A, NM_001085399.2:c.59G>T, NM_001085399.2:c.59G>A, NM_001085399.1:c.59G>T, NM_001085399.1:c.59G>A, XR_007057956.1:n.148G>T, XR_007057956.1:n.148G>A, XR_007057957.1:n.148G>T, XR_007057957.1:n.148G>A, XR_007057958.1:n.148G>T, XR_007057958.1:n.148G>A, XR_007057961.1:n.148G>T, XR_007057961.1:n.148G>A, XR_007057959.1:n.148G>T, XR_007057959.1:n.148G>A, XR_007057960.1:n.148G>T, XR_007057960.1:n.148G>A, NP_001078869.1:p.Gly20Val, NP_001078869.1:p.Gly20Asp, NP_001078868.1:p.Gly20Val, NP_001078868.1:p.Gly20Asp

Select item 142736448112.

rs1427364481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:37649279 (GRCh38)
4:37650901 (GRCh37)
Canonical SPDI:: NC_000004.12:37649278:T:A,NC_000004.12:37649278:T:C
Gene:: RELL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37649279T>A, NC_000004.12:g.37649279T>C, NC_000004.11:g.37650901T>A, NC_000004.11:g.37650901T>C, NM_001085400.2:c.310A>T, NM_001085400.2:c.310A>G, NM_001085400.1:c.310A>T, NM_001085400.1:c.310A>G, NM_001085399.2:c.310A>T, NM_001085399.2:c.310A>G, NM_001085399.1:c.310A>T, NM_001085399.1:c.310A>G, XR_007057956.1:n.399A>T, XR_007057956.1:n.399A>G, XR_007057957.1:n.399A>T, XR_007057957.1:n.399A>G, XR_007057958.1:n.399A>T, XR_007057958.1:n.399A>G, XR_007057961.1:n.399A>T, XR_007057961.1:n.399A>G, XR_007057959.1:n.399A>T, XR_007057959.1:n.399A>G, XR_007057960.1:n.399A>T, XR_007057960.1:n.399A>G, NP_001078869.1:p.Ile104Leu, NP_001078869.1:p.Ile104Val, NP_001078868.1:p.Ile104Leu, NP_001078868.1:p.Ile104Val

Select item 142733186813.

rs1427331868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:37686276 (GRCh38)
4:37687898 (GRCh37)
Canonical SPDI:: NC_000004.12:37686275:C:T
Gene:: RELL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000004.12:g.37686276C>T, NC_000004.11:g.37687898C>T, NM_001085400.2:c.12G>A, NM_001085400.1:c.12G>A, NM_001085399.2:c.12G>A, NM_001085399.1:c.12G>A, XR_007057956.1:n.101G>A, XR_007057957.1:n.101G>A, XR_007057958.1:n.101G>A, XR_007057961.1:n.101G>A, XR_007057959.1:n.101G>A, XR_007057960.1:n.101G>A

Select item 142239135114.

rs1422391351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:37686217 (GRCh38)
4:37687839 (GRCh37)
Canonical SPDI:: NC_000004.12:37686216:G:A
Gene:: RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.37686217G>A, NC_000004.11:g.37687839G>A, NM_001085400.2:c.71C>T, NM_001085400.1:c.71C>T, NM_001085399.2:c.71C>T, NM_001085399.1:c.71C>T, XR_007057956.1:n.160C>T, XR_007057957.1:n.160C>T, XR_007057958.1:n.160C>T, XR_007057961.1:n.160C>T, XR_007057959.1:n.160C>T, XR_007057960.1:n.160C>T, NP_001078869.1:p.Ser24Leu, NP_001078868.1:p.Ser24Leu

Select item 142047868115.

rs1420478681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:37635031 (GRCh38)
4:37636653 (GRCh37)
Canonical SPDI:: NC_000004.12:37635030:T:C,NC_000004.12:37635030:T:G
Gene:: RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000004.12:g.37635031T>C, NC_000004.12:g.37635031T>G, NC_000004.11:g.37636653T>C, NC_000004.11:g.37636653T>G, XM_017008590.3:c.155A>G, XM_017008590.3:c.155A>C, XM_017008590.2:c.155A>G, XM_017008590.2:c.155A>C, XM_017008590.1:c.155A>G, XM_017008590.1:c.155A>C, NM_001085400.2:c.536A>G, NM_001085400.2:c.536A>C, NM_001085400.1:c.536A>G, NM_001085400.1:c.536A>C, NM_001085399.2:c.536A>G, NM_001085399.2:c.536A>C, NM_001085399.1:c.536A>G, NM_001085399.1:c.536A>C, XR_007057956.1:n.625A>G, XR_007057956.1:n.625A>C, XR_007057957.1:n.625A>G, XR_007057957.1:n.625A>C, XR_007057958.1:n.625A>G, XR_007057958.1:n.625A>C, XR_007057961.1:n.625A>G, XR_007057961.1:n.625A>C, XR_007057959.1:n.625A>G, XR_007057959.1:n.625A>C, XR_007057960.1:n.625A>G, XR_007057960.1:n.625A>C, XP_016864079.1:p.His52Arg, XP_016864079.1:p.His52Pro, NP_001078869.1:p.His179Arg, NP_001078869.1:p.His179Pro, NP_001078868.1:p.His179Arg, NP_001078868.1:p.His179Pro

Select item 141785909716.

rs1417859097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:37649382 (GRCh38)
4:37651004 (GRCh37)
Canonical SPDI:: NC_000004.12:37649381:G:C
Gene:: RELL1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.37649382G>C, NC_000004.11:g.37651004G>C, NM_001085400.2:c.207C>G, NM_001085400.1:c.207C>G, NM_001085399.2:c.207C>G, NM_001085399.1:c.207C>G, XR_007057956.1:n.296C>G, XR_007057957.1:n.296C>G, XR_007057958.1:n.296C>G, XR_007057961.1:n.296C>G, XR_007057959.1:n.296C>G, XR_007057960.1:n.296C>G, NP_001078869.1:p.Ile69Met, NP_001078868.1:p.Ile69Met

Select item 141015033017.

rs1410150330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:37649349 (GRCh38)
4:37650971 (GRCh37)
Canonical SPDI:: NC_000004.12:37649348:C:T
Gene:: RELL1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37649349C>T, NC_000004.11:g.37650971C>T, NM_001085400.2:c.240G>A, NM_001085400.1:c.240G>A, NM_001085399.2:c.240G>A, NM_001085399.1:c.240G>A, XR_007057956.1:n.329G>A, XR_007057957.1:n.329G>A, XR_007057958.1:n.329G>A, XR_007057961.1:n.329G>A, XR_007057959.1:n.329G>A, XR_007057960.1:n.329G>A

Select item 140847285018.

rs1408472850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:37638500 (GRCh38)
4:37640122 (GRCh37)
Canonical SPDI:: NC_000004.12:37638499:A:T
Gene:: RELL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37638500A>T, NC_000004.11:g.37640122A>T, XM_017008590.3:c.9T>A, XM_017008590.2:c.9T>A, XM_017008590.1:c.9T>A, NM_001085400.2:c.390T>A, NM_001085400.1:c.390T>A, NM_001085399.2:c.390T>A, NM_001085399.1:c.390T>A, XR_007057956.1:n.479T>A, XR_007057957.1:n.479T>A, XR_007057958.1:n.479T>A, XR_007057961.1:n.479T>A, XR_007057959.1:n.479T>A, XR_007057960.1:n.479T>A, XP_016864079.1:p.Asn3Lys, NP_001078869.1:p.Asn130Lys, NP_001078868.1:p.Asn130Lys

Select item 140710171819.

rs1407101718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:37686277 (GRCh38)
4:37687899 (GRCh37)
Canonical SPDI:: NC_000004.12:37686276:C:G,NC_000004.12:37686276:C:T
Gene:: RELL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.37686277C>G, NC_000004.12:g.37686277C>T, NC_000004.11:g.37687899C>G, NC_000004.11:g.37687899C>T, NM_001085400.2:c.11G>C, NM_001085400.2:c.11G>A, NM_001085400.1:c.11G>C, NM_001085400.1:c.11G>A, NM_001085399.2:c.11G>C, NM_001085399.2:c.11G>A, NM_001085399.1:c.11G>C, NM_001085399.1:c.11G>A, XR_007057956.1:n.100G>C, XR_007057956.1:n.100G>A, XR_007057957.1:n.100G>C, XR_007057957.1:n.100G>A, XR_007057958.1:n.100G>C, XR_007057958.1:n.100G>A, XR_007057961.1:n.100G>C, XR_007057961.1:n.100G>A, XR_007057959.1:n.100G>C, XR_007057959.1:n.100G>A, XR_007057960.1:n.100G>C, XR_007057960.1:n.100G>A, NP_001078869.1:p.Arg4Pro, NP_001078869.1:p.Arg4Gln, NP_001078868.1:p.Arg4Pro, NP_001078868.1:p.Arg4Gln

Select item 140285506020.

rs1402855060 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:37635061 (GRCh38)
4:37636684 (GRCh37)
Canonical SPDI:: NC_000004.12:37635061::T
Gene:: RELL1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.37635061_37635062insT, NC_000004.11:g.37636683_37636684insT, XM_017008590.3:c.124_125insA, XM_017008590.2:c.124_125insA, XM_017008590.1:c.124_125insA, NM_001085400.2:c.505_506insA, NM_001085400.1:c.505_506insA, NM_001085399.2:c.505_506insA, NM_001085399.1:c.505_506insA, XR_007057956.1:n.594_595insA, XR_007057957.1:n.594_595insA, XR_007057958.1:n.594_595insA, XR_007057961.1:n.594_595insA, XR_007057959.1:n.594_595insA, XR_007057960.1:n.594_595insA, XP_016864079.1:p.Gly42fs, NP_001078869.1:p.Gly169fs, NP_001078868.1:p.Gly169fs

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