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rs267606631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606631(A;A)
Make rs267606631(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511269
GeneACTG1
is asnp
is mentioned by
dbSNPrs267606631
ebirs267606631
HLIrs267606631
Exacrs267606631
Varsomers267606631
Maprs267606631
PheGenIrs267606631
hapmaprs267606631
1000 genomesrs267606631
hgdprs267606631
ensemblrs267606631
gopubmedrs267606631
geneviewrs267606631
scholarrs267606631
googlers267606631
pharmgkbrs267606631
gwascentralrs267606631
openSNPrs267606631
23andMers267606631
23andMe allrs267606631
SNP Nexus

SNPshotrs267606631
SNPdbers267606631
MSV3drs267606631
GWAS Ctlgrs267606631
Max Magnitude0
ClinVar
Risk rs267606631(A;A)
Alt rs267606631(A;A)
Reference rs267606631(G;G)
Significance Pathogenic
Disease Deafness not provided Non-syndromic genetic deafness
Variation info
Gene ACTG1
CLNDBN Deafness, autosomal dominant 20 not provided Non-syndromic genetic deafness
Reversed 1
HGVS NC_000017.10:g.79478295C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000019987.30, RCV000059728.1, RCV000211710.1,


[PMID 19477959OA-icon.png] In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.