SNP Links for Protein (Select 1021589404) - SNP

Links from Protein

Items: 1 to 20 of 333

<< First< Prev

Page of 17

Next >Last >>

Select item 14882425151.

rs1488242515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:419563 (GRCh38)
20:400207 (GRCh37)
Canonical SPDI:: NC_000020.11:419562:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000020.11:g.419563C>T, NC_000020.10:g.400207C>T, NG_033233.1:g.16499C>T, NM_006462.6:c.462C>T, NM_006462.5:c.462C>T, NM_006462.4:c.462C>T, NM_031229.4:c.588C>T, NM_031229.3:c.588C>T, NM_031229.2:c.588C>T, NR_136659.2:n.1047C>T, NR_136659.1:n.1296C>T, NM_001323956.2:c.239C>T, NM_001323956.1:c.239C>T, NM_001323958.2:c.239C>T, NM_001323958.1:c.239C>T, NM_001410770.1:c.639C>T, XM_011529139.4:c.762C>T, XM_011529139.3:c.762C>T, XM_011529139.2:c.762C>T, XM_011529139.1:c.762C>T, XM_011529137.3:c.762C>T, XM_011529137.2:c.762C>T, XM_011529137.1:c.762C>T, XM_005260645.3:c.639C>T, XM_011529140.3:c.762C>T, XM_011529140.2:c.762C>T, XM_011529140.1:c.762C>T, XM_011529138.2:c.711C>T, XM_011529138.1:c.711C>T, NM_031228.1:c.558C>T, NM_031227.1:c.462C>T, XM_047439834.1:c.588C>T, XM_047439833.1:c.762C>T, XM_047439835.1:c.639C>T, NP_001310885.1:p.Ala80Val, NP_001310887.1:p.Ala80Val

Select item 14876472862.

rs1487647286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:427317 (GRCh38)
20:407961 (GRCh37)
Canonical SPDI:: NC_000020.11:427316:T:C
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.427317T>C, NC_000020.10:g.407961T>C, NG_033233.1:g.24253T>C, NM_006462.6:c.908T>C, NM_006462.5:c.908T>C, NM_006462.4:c.908T>C, NM_031229.4:c.1034T>C, NM_031229.3:c.1034T>C, NM_031229.2:c.1034T>C, NR_136659.2:n.1468T>C, NR_136659.1:n.1717T>C, NM_001323956.2:c.524T>C, NM_001323956.1:c.524T>C, NM_001323958.2:c.524T>C, NM_001323958.1:c.524T>C, NM_001410770.1:c.1085T>C, XM_011529139.4:c.1208T>C, XM_011529139.3:c.1208T>C, XM_011529139.2:c.1208T>C, XM_011529139.1:c.1208T>C, XM_011529137.3:c.1208T>C, XM_011529137.2:c.1208T>C, XM_011529137.1:c.1208T>C, XM_005260645.3:c.1085T>C, XM_011529138.2:c.1157T>C, XM_011529138.1:c.1157T>C, NM_031228.1:c.*54T>C, NM_031227.1:c.*54T>C, NP_006453.1:p.Leu303Pro, NP_112506.2:p.Leu345Pro, NP_001310885.1:p.Leu175Pro, NP_001310887.1:p.Leu175Pro, XP_011527441.1:p.Leu403Pro, XP_011527439.1:p.Leu403Pro, XP_005260702.1:p.Leu362Pro, XP_011527440.1:p.Leu386Pro

Select item 14875038353.

rs1487503835 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCTGGCAGTG>- [Show Flanks]
Chromosome:: 20:419561 (GRCh38)
20:400205 (GRCh37)
Canonical SPDI:: NC_000020.11:419557:GTGGGCTGGCAGTG:GTG
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.419561_419571del, NC_000020.10:g.400205_400215del, NG_033233.1:g.16497_16507del, NM_006462.6:c.460_470del, NM_006462.5:c.460_470del, NM_006462.4:c.460_470del, NM_031229.4:c.586_596del, NM_031229.3:c.586_596del, NM_031229.2:c.586_596del, NR_136659.2:n.1045_1055del, NR_136659.1:n.1294_1304del, NM_001323956.2:c.237_247del, NM_001323956.1:c.237_247del, NM_001323958.2:c.237_247del, NM_001323958.1:c.237_247del, NM_001410770.1:c.637_647del, XM_011529139.4:c.760_770del, XM_011529139.3:c.760_770del, XM_011529139.2:c.760_770del, XM_011529139.1:c.760_770del, XM_011529137.3:c.760_770del, XM_011529137.2:c.760_770del, XM_011529137.1:c.760_770del, XM_005260645.3:c.637_647del, XM_011529140.3:c.760_770del, XM_011529140.2:c.760_770del, XM_011529140.1:c.760_770del, XM_011529138.2:c.709_719del, XM_011529138.1:c.709_719del, NM_031228.1:c.556_566del, NM_031227.1:c.460_470del, XM_047439834.1:c.586_596del, XM_047439833.1:c.760_770del, XM_047439835.1:c.637_647del, NP_006453.1:p.Gly154fs, NP_112506.2:p.Gly196fs, NP_001310885.1:p.Trp79fs, NP_001310887.1:p.Trp79fs, XP_011527441.1:p.Gly254fs, XP_011527439.1:p.Gly254fs, XP_005260702.1:p.Gly213fs, XP_011527442.1:p.Gly254fs, XP_011527440.1:p.Gly237fs, XP_047295790.1:p.Gly196fs, XP_047295789.1:p.Gly254fs, XP_047295791.1:p.Gly213fs

Select item 14867714684.

rs1486771468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:419688 (GRCh38)
20:400332 (GRCh37)
Canonical SPDI:: NC_000020.11:419687:C:A,NC_000020.11:419687:C:G
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000020.11:g.419688C>A, NC_000020.11:g.419688C>G, NC_000020.10:g.400332C>A, NC_000020.10:g.400332C>G, NG_033233.1:g.16624C>A, NG_033233.1:g.16624C>G, NM_006462.6:c.587C>A, NM_006462.6:c.587C>G, NM_006462.5:c.587C>A, NM_006462.5:c.587C>G, NM_006462.4:c.587C>A, NM_006462.4:c.587C>G, NM_031229.4:c.713C>A, NM_031229.4:c.713C>G, NM_031229.3:c.713C>A, NM_031229.3:c.713C>G, NM_031229.2:c.713C>A, NM_031229.2:c.713C>G, NR_136659.2:n.1172C>A, NR_136659.2:n.1172C>G, NR_136659.1:n.1421C>A, NR_136659.1:n.1421C>G, NM_001323956.2:c.364C>A, NM_001323956.2:c.364C>G, NM_001323956.1:c.364C>A, NM_001323956.1:c.364C>G, NM_001323958.2:c.364C>A, NM_001323958.2:c.364C>G, NM_001323958.1:c.364C>A, NM_001323958.1:c.364C>G, NM_001410770.1:c.764C>A, NM_001410770.1:c.764C>G, XM_011529139.4:c.887C>A, XM_011529139.4:c.887C>G, XM_011529139.3:c.887C>A, XM_011529139.3:c.887C>G, XM_011529139.2:c.887C>A, XM_011529139.2:c.887C>G, XM_011529139.1:c.887C>A, XM_011529139.1:c.887C>G, XM_011529137.3:c.887C>A, XM_011529137.3:c.887C>G, XM_011529137.2:c.887C>A, XM_011529137.2:c.887C>G, XM_011529137.1:c.887C>A, XM_011529137.1:c.887C>G, XM_005260645.3:c.764C>A, XM_005260645.3:c.764C>G, XM_011529140.3:c.887C>A, XM_011529140.3:c.887C>G, XM_011529140.2:c.887C>A, XM_011529140.2:c.887C>G, XM_011529140.1:c.887C>A, XM_011529140.1:c.887C>G, XM_011529138.2:c.836C>A, XM_011529138.2:c.836C>G, XM_011529138.1:c.836C>A, XM_011529138.1:c.836C>G, NM_031228.1:c.683C>A, NM_031228.1:c.683C>G, NM_031227.1:c.587C>A, NM_031227.1:c.587C>G, XM_047439834.1:c.713C>A, XM_047439834.1:c.713C>G, XM_047439833.1:c.887C>A, XM_047439833.1:c.887C>G, XM_047439835.1:c.764C>A, XM_047439835.1:c.764C>G, NP_006453.1:p.Ala196Glu, NP_006453.1:p.Ala196Gly, NP_112506.2:p.Ala238Glu, NP_112506.2:p.Ala238Gly, NP_001310885.1:p.Arg122Ser, NP_001310885.1:p.Arg122Gly, NP_001310887.1:p.Arg122Ser, NP_001310887.1:p.Arg122Gly, XP_011527441.1:p.Ala296Glu, XP_011527441.1:p.Ala296Gly, XP_011527439.1:p.Ala296Glu, XP_011527439.1:p.Ala296Gly, XP_005260702.1:p.Ala255Glu, XP_005260702.1:p.Ala255Gly, XP_011527442.1:p.Ala296Glu, XP_011527442.1:p.Ala296Gly, XP_011527440.1:p.Ala279Glu, XP_011527440.1:p.Ala279Gly, XP_047295790.1:p.Ala238Glu, XP_047295790.1:p.Ala238Gly, XP_047295789.1:p.Ala296Glu, XP_047295789.1:p.Ala296Gly, XP_047295791.1:p.Ala255Glu, XP_047295791.1:p.Ala255Gly

Select item 14838759225.

rs1483875922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:427489 (GRCh38)
20:408133 (GRCh37)
Canonical SPDI:: NC_000020.11:427488:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00005/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.427489C>T, NC_000020.10:g.408133C>T, NG_033233.1:g.24425C>T, NM_006462.6:c.1080C>T, NM_006462.5:c.1080C>T, NM_006462.4:c.1080C>T, NM_031229.4:c.1206C>T, NM_031229.3:c.1206C>T, NM_031229.2:c.1206C>T, NR_136659.2:n.1640C>T, NR_136659.1:n.1889C>T, NM_001323956.2:c.696C>T, NM_001323956.1:c.696C>T, NM_001323958.2:c.696C>T, NM_001323958.1:c.696C>T, NM_001410770.1:c.1257C>T, XM_011529139.4:c.1380C>T, XM_011529139.3:c.1380C>T, XM_011529139.2:c.1380C>T, XM_011529139.1:c.1380C>T, XM_011529137.3:c.1380C>T, XM_011529137.2:c.1380C>T, XM_011529137.1:c.1380C>T, XM_005260645.3:c.1257C>T, XM_011529138.2:c.1329C>T, XM_011529138.1:c.1329C>T, NM_031228.1:c.*226C>T, NM_031227.1:c.*226C>T

Select item 14821936636.

rs1482193663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:419635 (GRCh38)
20:400279 (GRCh37)
Canonical SPDI:: NC_000020.11:419634:C:G
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000020.11:g.419635C>G, NC_000020.10:g.400279C>G, NG_033233.1:g.16571C>G, NM_006462.6:c.534C>G, NM_006462.5:c.534C>G, NM_006462.4:c.534C>G, NM_031229.4:c.660C>G, NM_031229.3:c.660C>G, NM_031229.2:c.660C>G, NR_136659.2:n.1119C>G, NR_136659.1:n.1368C>G, NM_001323956.2:c.311C>G, NM_001323956.1:c.311C>G, NM_001323958.2:c.311C>G, NM_001323958.1:c.311C>G, NM_001410770.1:c.711C>G, XM_011529139.4:c.834C>G, XM_011529139.3:c.834C>G, XM_011529139.2:c.834C>G, XM_011529139.1:c.834C>G, XM_011529137.3:c.834C>G, XM_011529137.2:c.834C>G, XM_011529137.1:c.834C>G, XM_005260645.3:c.711C>G, XM_011529140.3:c.834C>G, XM_011529140.2:c.834C>G, XM_011529140.1:c.834C>G, XM_011529138.2:c.783C>G, XM_011529138.1:c.783C>G, NM_031228.1:c.630C>G, NM_031227.1:c.534C>G, XM_047439834.1:c.660C>G, XM_047439833.1:c.834C>G, XM_047439835.1:c.711C>G, NP_001310885.1:p.Ala104Gly, NP_001310887.1:p.Ala104Gly

Select item 14789170457.

rs1478917045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:428544 (GRCh38)
20:409188 (GRCh37)
Canonical SPDI:: NC_000020.11:428543:G:A
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
HGVS:: NC_000020.11:g.428544G>A, NC_000020.10:g.409188G>A, NG_033233.1:g.25480G>A, NM_006462.6:c.1137G>A, NM_006462.5:c.1137G>A, NM_006462.4:c.1137G>A, NM_031229.4:c.1263G>A, NM_031229.3:c.1263G>A, NM_031229.2:c.1263G>A, NR_136659.2:n.1697G>A, NR_136659.1:n.1946G>A, NM_001323956.2:c.753G>A, NM_001323956.1:c.753G>A, NM_001323958.2:c.753G>A, NM_001323958.1:c.753G>A, NM_001410770.1:c.1314G>A, XM_011529139.4:c.1437G>A, XM_011529139.3:c.1437G>A, XM_011529139.2:c.1437G>A, XM_011529139.1:c.1437G>A, XM_011529137.3:c.1437G>A, XM_011529137.2:c.1437G>A, XM_011529137.1:c.1437G>A, XM_005260645.3:c.1314G>A, XM_011529138.2:c.1386G>A, XM_011529138.1:c.1386G>A, NM_031228.1:c.*283G>A, NM_031227.1:c.*283G>A

Select item 14780592138.

rs1478059213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:422205 (GRCh38)
20:402849 (GRCh37)
Canonical SPDI:: NC_000020.11:422204:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.422205C>T, NC_000020.10:g.402849C>T, NG_033233.1:g.19141C>T, NM_006462.6:c.870C>T, NM_006462.5:c.870C>T, NM_006462.4:c.870C>T, NM_031229.4:c.996C>T, NM_031229.3:c.996C>T, NM_031229.2:c.996C>T, NR_136659.2:n.1430C>T, NR_136659.1:n.1679C>T, NM_001323956.2:c.486C>T, NM_001323956.1:c.486C>T, NM_001323958.2:c.486C>T, NM_001323958.1:c.486C>T, NM_001410770.1:c.1047C>T, XM_011529139.4:c.1170C>T, XM_011529139.3:c.1170C>T, XM_011529139.2:c.1170C>T, XM_011529139.1:c.1170C>T, XM_011529137.3:c.1170C>T, XM_011529137.2:c.1170C>T, XM_011529137.1:c.1170C>T, XM_005260645.3:c.1047C>T, XM_011529138.2:c.1119C>T, XM_011529138.1:c.1119C>T, NM_031228.1:c.*16C>T, NM_031227.1:c.*16C>T, XM_047439833.1:c.*16C>T, XM_047439835.1:c.*16C>T

Select item 14757722039.

rs1475772203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:417842 (GRCh38)
20:398486 (GRCh37)
Canonical SPDI:: NC_000020.11:417841:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.417842C>T, NC_000020.10:g.398486C>T, NG_033233.1:g.14778C>T, NM_006462.6:c.246C>T, NM_006462.5:c.246C>T, NM_006462.4:c.246C>T, NM_031229.4:c.372C>T, NM_031229.3:c.372C>T, NM_031229.2:c.372C>T, NR_136659.2:n.831C>T, NR_136659.1:n.1080C>T, NM_001323956.2:c.23C>T, NM_001323956.1:c.23C>T, NM_001323958.2:c.23C>T, NM_001323958.1:c.23C>T, NM_001410770.1:c.423C>T, XM_011529139.4:c.546C>T, XM_011529139.3:c.546C>T, XM_011529139.2:c.546C>T, XM_011529139.1:c.546C>T, XM_011529137.3:c.546C>T, XM_011529137.2:c.546C>T, XM_011529137.1:c.546C>T, XM_005260645.3:c.423C>T, XM_011529140.3:c.546C>T, XM_011529140.2:c.546C>T, XM_011529140.1:c.546C>T, XM_011529138.2:c.495C>T, XM_011529138.1:c.495C>T, NM_031228.1:c.342C>T, NM_031227.1:c.246C>T, XM_047439834.1:c.372C>T, XM_047439833.1:c.546C>T, XM_047439835.1:c.423C>T, NP_001310885.1:p.Thr8Ile, NP_001310887.1:p.Thr8Ile

Select item 147272238410.

rs1472722384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:417917 (GRCh38)
20:398561 (GRCh37)
Canonical SPDI:: NC_000020.11:417916:G:A
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.417917G>A, NC_000020.10:g.398561G>A, NG_033233.1:g.14853G>A, NM_006462.6:c.321G>A, NM_006462.5:c.321G>A, NM_006462.4:c.321G>A, NM_031229.4:c.447G>A, NM_031229.3:c.447G>A, NM_031229.2:c.447G>A, NR_136659.2:n.906G>A, NR_136659.1:n.1155G>A, NM_001323956.2:c.98G>A, NM_001323956.1:c.98G>A, NM_001323958.2:c.98G>A, NM_001323958.1:c.98G>A, NM_001410770.1:c.498G>A, XM_011529139.4:c.621G>A, XM_011529139.3:c.621G>A, XM_011529139.2:c.621G>A, XM_011529139.1:c.621G>A, XM_011529137.3:c.621G>A, XM_011529137.2:c.621G>A, XM_011529137.1:c.621G>A, XM_005260645.3:c.498G>A, XM_011529140.3:c.621G>A, XM_011529140.2:c.621G>A, XM_011529140.1:c.621G>A, XM_011529138.2:c.570G>A, XM_011529138.1:c.570G>A, NM_031228.1:c.417G>A, NM_031227.1:c.321G>A, XM_047439834.1:c.447G>A, XM_047439833.1:c.621G>A, XM_047439835.1:c.498G>A, NP_001310885.1:p.Cys33Tyr, NP_001310887.1:p.Cys33Tyr

Select item 147240932611.

rs1472409326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:428548 (GRCh38)
20:409192 (GRCh37)
Canonical SPDI:: NC_000020.11:428547:C:G
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.428548C>G, NC_000020.10:g.409192C>G, NG_033233.1:g.25484C>G, NM_006462.6:c.1141C>G, NM_006462.5:c.1141C>G, NM_006462.4:c.1141C>G, NM_031229.4:c.1267C>G, NM_031229.3:c.1267C>G, NM_031229.2:c.1267C>G, NR_136659.2:n.1701C>G, NR_136659.1:n.1950C>G, NM_001323956.2:c.757C>G, NM_001323956.1:c.757C>G, NM_001323958.2:c.757C>G, NM_001323958.1:c.757C>G, NM_001410770.1:c.1318C>G, XM_011529139.4:c.1441C>G, XM_011529139.3:c.1441C>G, XM_011529139.2:c.1441C>G, XM_011529139.1:c.1441C>G, XM_011529137.3:c.1441C>G, XM_011529137.2:c.1441C>G, XM_011529137.1:c.1441C>G, XM_005260645.3:c.1318C>G, XM_011529138.2:c.1390C>G, XM_011529138.1:c.1390C>G, NM_031228.1:c.*287C>G, NM_031227.1:c.*287C>G, NP_006453.1:p.Gln381Glu, NP_112506.2:p.Gln423Glu, NP_001310885.1:p.Gln253Glu, NP_001310887.1:p.Gln253Glu, XP_011527441.1:p.Gln481Glu, XP_011527439.1:p.Gln481Glu, XP_005260702.1:p.Gln440Glu, XP_011527440.1:p.Gln464Glu

Select item 147032636412.

rs1470326364 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 20:419399 (GRCh38)
20:400043 (GRCh37)
Canonical SPDI:: NC_000020.11:419398:CCCCCC:CCCCC,NC_000020.11:419398:CCCCCC:CCCCCCC
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000020.11:g.419404del, NC_000020.11:g.419404dup, NC_000020.10:g.400048del, NC_000020.10:g.400048dup, NG_033233.1:g.16340del, NG_033233.1:g.16340dup, NM_006462.6:c.392del, NM_006462.6:c.392dup, NM_006462.5:c.392del, NM_006462.5:c.392dup, NM_006462.4:c.392del, NM_006462.4:c.392dup, NM_031229.4:c.518del, NM_031229.4:c.518dup, NM_031229.3:c.518del, NM_031229.3:c.518dup, NM_031229.2:c.518del, NM_031229.2:c.518dup, NR_136659.2:n.977del, NR_136659.2:n.977dup, NR_136659.1:n.1226del, NR_136659.1:n.1226dup, NM_001323956.2:c.169del, NM_001323956.2:c.169dup, NM_001323956.1:c.169del, NM_001323956.1:c.169dup, NM_001323958.2:c.169del, NM_001323958.2:c.169dup, NM_001323958.1:c.169del, NM_001323958.1:c.169dup, NM_001410770.1:c.569del, NM_001410770.1:c.569dup, XM_011529139.4:c.692del, XM_011529139.4:c.692dup, XM_011529139.3:c.692del, XM_011529139.3:c.692dup, XM_011529139.2:c.692del, XM_011529139.2:c.692dup, XM_011529139.1:c.692del, XM_011529139.1:c.692dup, XM_011529137.3:c.692del, XM_011529137.3:c.692dup, XM_011529137.2:c.692del, XM_011529137.2:c.692dup, XM_011529137.1:c.692del, XM_011529137.1:c.692dup, XM_005260645.3:c.569del, XM_005260645.3:c.569dup, XM_011529140.3:c.692del, XM_011529140.3:c.692dup, XM_011529140.2:c.692del, XM_011529140.2:c.692dup, XM_011529140.1:c.692del, XM_011529140.1:c.692dup, XM_011529138.2:c.641del, XM_011529138.2:c.641dup, XM_011529138.1:c.641del, XM_011529138.1:c.641dup, NM_031228.1:c.488del, NM_031228.1:c.488dup, NM_031227.1:c.392del, NM_031227.1:c.392dup, XM_047439834.1:c.518del, XM_047439834.1:c.518dup, XM_047439833.1:c.692del, XM_047439833.1:c.692dup, XM_047439835.1:c.569del, XM_047439835.1:c.569dup, NP_006453.1:p.Pro131fs, NP_006453.1:p.Pro133fs, NP_112506.2:p.Pro173fs, NP_112506.2:p.Pro175fs, NP_001310885.1:p.Gln57fs, NP_001310885.1:p.Gln57fs, NP_001310887.1:p.Gln57fs, NP_001310887.1:p.Gln57fs, XP_011527441.1:p.Pro231fs, XP_011527441.1:p.Pro233fs, XP_011527439.1:p.Pro231fs, XP_011527439.1:p.Pro233fs, XP_005260702.1:p.Pro190fs, XP_005260702.1:p.Pro192fs, XP_011527442.1:p.Pro231fs, XP_011527442.1:p.Pro233fs, XP_011527440.1:p.Pro214fs, XP_011527440.1:p.Pro216fs, XP_047295790.1:p.Pro173fs, XP_047295790.1:p.Pro175fs, XP_047295789.1:p.Pro231fs, XP_047295789.1:p.Pro233fs, XP_047295791.1:p.Pro190fs, XP_047295791.1:p.Pro192fs

Select item 146946343413.

rs1469463434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:419380 (GRCh38)
20:400024 (GRCh37)
Canonical SPDI:: NC_000020.11:419379:G:A
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.419380G>A, NC_000020.10:g.400024G>A, NG_033233.1:g.16316G>A, NM_006462.6:c.368G>A, NM_006462.5:c.368G>A, NM_006462.4:c.368G>A, NM_031229.4:c.494G>A, NM_031229.3:c.494G>A, NM_031229.2:c.494G>A, NR_136659.2:n.953G>A, NR_136659.1:n.1202G>A, NM_001323956.2:c.145G>A, NM_001323956.1:c.145G>A, NM_001323958.2:c.145G>A, NM_001323958.1:c.145G>A, NM_001410770.1:c.545G>A, XM_011529139.4:c.668G>A, XM_011529139.3:c.668G>A, XM_011529139.2:c.668G>A, XM_011529139.1:c.668G>A, XM_011529137.3:c.668G>A, XM_011529137.2:c.668G>A, XM_011529137.1:c.668G>A, XM_005260645.3:c.545G>A, XM_011529140.3:c.668G>A, XM_011529140.2:c.668G>A, XM_011529140.1:c.668G>A, XM_011529138.2:c.617G>A, XM_011529138.1:c.617G>A, NM_031228.1:c.464G>A, NM_031227.1:c.368G>A, XM_047439834.1:c.494G>A, XM_047439833.1:c.668G>A, XM_047439835.1:c.545G>A, NP_006453.1:p.Arg123Gln, NP_112506.2:p.Arg165Gln, NP_001310885.1:p.Gly49Arg, NP_001310887.1:p.Gly49Arg, XP_011527441.1:p.Arg223Gln, XP_011527439.1:p.Arg223Gln, XP_005260702.1:p.Arg182Gln, XP_011527442.1:p.Arg223Gln, XP_011527440.1:p.Arg206Gln, XP_047295790.1:p.Arg165Gln, XP_047295789.1:p.Arg223Gln, XP_047295791.1:p.Arg182Gln

Select item 146788674314.

rs1467886743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:419659 (GRCh38)
20:400303 (GRCh37)
Canonical SPDI:: NC_000020.11:419658:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_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_000020.11:g.419659C>T, NC_000020.10:g.400303C>T, NG_033233.1:g.16595C>T, NM_006462.6:c.558C>T, NM_006462.5:c.558C>T, NM_006462.4:c.558C>T, NM_031229.4:c.684C>T, NM_031229.3:c.684C>T, NM_031229.2:c.684C>T, NR_136659.2:n.1143C>T, NR_136659.1:n.1392C>T, NM_001323956.2:c.335C>T, NM_001323956.1:c.335C>T, NM_001323958.2:c.335C>T, NM_001323958.1:c.335C>T, NM_001410770.1:c.735C>T, XM_011529139.4:c.858C>T, XM_011529139.3:c.858C>T, XM_011529139.2:c.858C>T, XM_011529139.1:c.858C>T, XM_011529137.3:c.858C>T, XM_011529137.2:c.858C>T, XM_011529137.1:c.858C>T, XM_005260645.3:c.735C>T, XM_011529140.3:c.858C>T, XM_011529140.2:c.858C>T, XM_011529140.1:c.858C>T, XM_011529138.2:c.807C>T, XM_011529138.1:c.807C>T, NM_031228.1:c.654C>T, NM_031227.1:c.558C>T, XM_047439834.1:c.684C>T, XM_047439833.1:c.858C>T, XM_047439835.1:c.735C>T, NP_001310885.1:p.Pro112Leu, NP_001310887.1:p.Pro112Leu

Select item 146669570615.

rs1466695706 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:417854 (GRCh38)
20:398498 (GRCh37)
Canonical SPDI:: NC_000020.11:417853:C:G
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.417854C>G, NC_000020.10:g.398498C>G, NG_033233.1:g.14790C>G, NM_006462.6:c.258C>G, NM_006462.5:c.258C>G, NM_006462.4:c.258C>G, NM_031229.4:c.384C>G, NM_031229.3:c.384C>G, NM_031229.2:c.384C>G, NR_136659.2:n.843C>G, NR_136659.1:n.1092C>G, NM_001323956.2:c.35C>G, NM_001323956.1:c.35C>G, NM_001323958.2:c.35C>G, NM_001323958.1:c.35C>G, NM_001410770.1:c.435C>G, XM_011529139.4:c.558C>G, XM_011529139.3:c.558C>G, XM_011529139.2:c.558C>G, XM_011529139.1:c.558C>G, XM_011529137.3:c.558C>G, XM_011529137.2:c.558C>G, XM_011529137.1:c.558C>G, XM_005260645.3:c.435C>G, XM_011529140.3:c.558C>G, XM_011529140.2:c.558C>G, XM_011529140.1:c.558C>G, XM_011529138.2:c.507C>G, XM_011529138.1:c.507C>G, NM_031228.1:c.354C>G, NM_031227.1:c.258C>G, XM_047439834.1:c.384C>G, XM_047439833.1:c.558C>G, XM_047439835.1:c.435C>G, NP_001310885.1:p.Ser12Cys, NP_001310887.1:p.Ser12Cys

Select item 146543661516.

rs1465436615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:422169 (GRCh38)
20:402813 (GRCh37)
Canonical SPDI:: NC_000020.11:422168:G:A
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.422169G>A, NC_000020.10:g.402813G>A, NG_033233.1:g.19105G>A, NM_006462.6:c.834G>A, NM_006462.5:c.834G>A, NM_006462.4:c.834G>A, NM_031229.4:c.960G>A, NM_031229.3:c.960G>A, NM_031229.2:c.960G>A, NR_136659.2:n.1394G>A, NR_136659.1:n.1643G>A, NM_001323956.2:c.450G>A, NM_001323956.1:c.450G>A, NM_001323958.2:c.450G>A, NM_001323958.1:c.450G>A, NM_001410770.1:c.1011G>A, XM_011529139.4:c.1134G>A, XM_011529139.3:c.1134G>A, XM_011529139.2:c.1134G>A, XM_011529139.1:c.1134G>A, XM_011529137.3:c.1134G>A, XM_011529137.2:c.1134G>A, XM_011529137.1:c.1134G>A, XM_005260645.3:c.1011G>A, XM_011529138.2:c.1083G>A, XM_011529138.1:c.1083G>A, NM_031228.1:c.769G>A, NM_031227.1:c.673G>A, XM_047439833.1:c.973G>A, XM_047439835.1:c.850G>A, XP_047295789.1:p.Gly325Ser, XP_047295791.1:p.Gly284Ser

Select item 146321965917.

rs1463219659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:428539 (GRCh38)
20:409183 (GRCh37)
Canonical SPDI:: NC_000020.11:428538:C:A
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.428539C>A, NC_000020.10:g.409183C>A, NG_033233.1:g.25475C>A, NM_006462.6:c.1132C>A, NM_006462.5:c.1132C>A, NM_006462.4:c.1132C>A, NM_031229.4:c.1258C>A, NM_031229.3:c.1258C>A, NM_031229.2:c.1258C>A, NR_136659.2:n.1692C>A, NR_136659.1:n.1941C>A, NM_001323956.2:c.748C>A, NM_001323956.1:c.748C>A, NM_001323958.2:c.748C>A, NM_001323958.1:c.748C>A, NM_001410770.1:c.1309C>A, XM_011529139.4:c.1432C>A, XM_011529139.3:c.1432C>A, XM_011529139.2:c.1432C>A, XM_011529139.1:c.1432C>A, XM_011529137.3:c.1432C>A, XM_011529137.2:c.1432C>A, XM_011529137.1:c.1432C>A, XM_005260645.3:c.1309C>A, XM_011529138.2:c.1381C>A, XM_011529138.1:c.1381C>A, NM_031228.1:c.*278C>A, NM_031227.1:c.*278C>A, NP_006453.1:p.Leu378Met, NP_112506.2:p.Leu420Met, NP_001310885.1:p.Leu250Met, NP_001310887.1:p.Leu250Met, XP_011527441.1:p.Leu478Met, XP_011527439.1:p.Leu478Met, XP_005260702.1:p.Leu437Met, XP_011527440.1:p.Leu461Met

Select item 145809679118.

rs1458096791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:430372 (GRCh38)
20:411016 (GRCh37)
Canonical SPDI:: NC_000020.11:430371:G:C
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.430372G>C, NC_000020.10:g.411016G>C, NG_033233.1:g.27308G>C, NM_006462.6:c.1349G>C, NM_006462.5:c.1349G>C, NM_006462.4:c.1349G>C, NM_031229.4:c.1475G>C, NM_031229.3:c.1475G>C, NM_031229.2:c.1475G>C, NR_136659.2:n.1909G>C, NR_136659.1:n.2158G>C, NM_001323956.2:c.965G>C, NM_001323956.1:c.965G>C, NM_001323958.2:c.965G>C, NM_001323958.1:c.965G>C, NM_001410770.1:c.1526G>C, XM_011529137.3:c.1649G>C, XM_011529137.2:c.1649G>C, XM_011529137.1:c.1649G>C, XM_005260645.3:c.1526G>C, XM_011529138.2:c.1598G>C, XM_011529138.1:c.1598G>C, NM_031228.1:c.*495G>C, NM_031227.1:c.*495G>C, NP_006453.1:p.Gly450Ala, NP_112506.2:p.Gly492Ala, NP_001310885.1:p.Gly322Ala, NP_001310887.1:p.Gly322Ala, XP_011527439.1:p.Gly550Ala, XP_005260702.1:p.Gly509Ala, XP_011527440.1:p.Gly533Ala

Select item 145751061419.

rs1457510614 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAG>-,CAGCAG [Show Flanks]
Chromosome:: 20:428503 (GRCh38)
20:409147 (GRCh37)
Canonical SPDI:: NC_000020.11:428500:AGCAG:AG,NC_000020.11:428500:AGCAG:AGCAGCAG
Gene:: RBCK1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,inframe_deletion,inframe_insertion,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCAGCAG=0./0 (ALFA)
HGVS:: NC_000020.11:g.428503_428505del, NC_000020.11:g.428503_428505dup, NC_000020.10:g.409147_409149del, NC_000020.10:g.409147_409149dup, NG_033233.1:g.25439_25441del, NG_033233.1:g.25439_25441dup, NM_006462.6:c.1096_1098del, NM_006462.6:c.1096_1098dup, NM_006462.5:c.1096_1098del, NM_006462.5:c.1096_1098dup, NM_006462.4:c.1096_1098del, NM_006462.4:c.1096_1098dup, NM_031229.4:c.1222_1224del, NM_031229.4:c.1222_1224dup, NM_031229.3:c.1222_1224del, NM_031229.3:c.1222_1224dup, NM_031229.2:c.1222_1224del, NM_031229.2:c.1222_1224dup, NR_136659.2:n.1656_1658del, NR_136659.2:n.1656_1658dup, NR_136659.1:n.1905_1907del, NR_136659.1:n.1905_1907dup, NM_001323956.2:c.712_714del, NM_001323956.2:c.712_714dup, NM_001323956.1:c.712_714del, NM_001323956.1:c.712_714dup, NM_001323958.2:c.712_714del, NM_001323958.2:c.712_714dup, NM_001323958.1:c.712_714del, NM_001323958.1:c.712_714dup, NM_001410770.1:c.1273_1275del, NM_001410770.1:c.1273_1275dup, XM_011529139.4:c.1396_1398del, XM_011529139.4:c.1396_1398dup, XM_011529139.3:c.1396_1398del, XM_011529139.3:c.1396_1398dup, XM_011529139.2:c.1396_1398del, XM_011529139.2:c.1396_1398dup, XM_011529139.1:c.1396_1398del, XM_011529139.1:c.1396_1398dup, XM_011529137.3:c.1396_1398del, XM_011529137.3:c.1396_1398dup, XM_011529137.2:c.1396_1398del, XM_011529137.2:c.1396_1398dup, XM_011529137.1:c.1396_1398del, XM_011529137.1:c.1396_1398dup, XM_005260645.3:c.1273_1275del, XM_005260645.3:c.1273_1275dup, XM_011529138.2:c.1345_1347del, XM_011529138.2:c.1345_1347dup, XM_011529138.1:c.1345_1347del, XM_011529138.1:c.1345_1347dup, NM_031228.1:c.*242_*244del, NM_031228.1:c.*242_*244dup, NM_031227.1:c.*242_*244del, NM_031227.1:c.*242_*244dup, NP_006453.1:p.Gln366del, NP_006453.1:p.Gln366dup, NP_112506.2:p.Gln408del, NP_112506.2:p.Gln408dup, NP_001310885.1:p.Gln238del, NP_001310885.1:p.Gln238dup, NP_001310887.1:p.Gln238del, NP_001310887.1:p.Gln238dup, XP_011527441.1:p.Gln466del, XP_011527441.1:p.Gln466dup, XP_011527439.1:p.Gln466del, XP_011527439.1:p.Gln466dup, XP_005260702.1:p.Gln425del, XP_005260702.1:p.Gln425dup, XP_011527440.1:p.Gln449del, XP_011527440.1:p.Gln449dup

Select item 145657611020.

rs1456576110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:419404 (GRCh38)
20:400048 (GRCh37)
Canonical SPDI:: NC_000020.11:419403:C:T
Gene:: RBCK1 (Varview)
Functional Consequence:: missense_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.419404C>T, NC_000020.10:g.400048C>T, NG_033233.1:g.16340C>T, NM_006462.6:c.392C>T, NM_006462.5:c.392C>T, NM_006462.4:c.392C>T, NM_031229.4:c.518C>T, NM_031229.3:c.518C>T, NM_031229.2:c.518C>T, NR_136659.2:n.977C>T, NR_136659.1:n.1226C>T, NM_001323956.2:c.169C>T, NM_001323956.1:c.169C>T, NM_001323958.2:c.169C>T, NM_001323958.1:c.169C>T, NM_001410770.1:c.569C>T, XM_011529139.4:c.692C>T, XM_011529139.3:c.692C>T, XM_011529139.2:c.692C>T, XM_011529139.1:c.692C>T, XM_011529137.3:c.692C>T, XM_011529137.2:c.692C>T, XM_011529137.1:c.692C>T, XM_005260645.3:c.569C>T, XM_011529140.3:c.692C>T, XM_011529140.2:c.692C>T, XM_011529140.1:c.692C>T, XM_011529138.2:c.641C>T, XM_011529138.1:c.641C>T, NM_031228.1:c.488C>T, NM_031227.1:c.392C>T, XM_047439834.1:c.518C>T, XM_047439833.1:c.692C>T, XM_047439835.1:c.569C>T, NP_006453.1:p.Pro131Leu, NP_112506.2:p.Pro173Leu, NP_001310885.1:p.Gln57Ter, NP_001310887.1:p.Gln57Ter, XP_011527441.1:p.Pro231Leu, XP_011527439.1:p.Pro231Leu, XP_005260702.1:p.Pro190Leu, XP_011527442.1:p.Pro231Leu, XP_011527440.1:p.Pro214Leu, XP_047295790.1:p.Pro173Leu, XP_047295789.1:p.Pro231Leu, XP_047295791.1:p.Pro190Leu

<< First< Prev

Page of 17

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 333

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity