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rs397517925

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of an Usher syndrome mutation
(T;T) 5 Usher syndrome, type 1G
ReferenceGRCh38 38.1/141
Chromosome17
Position74919463
GeneUSH1G
is asnp
is mentioned by
dbSNPrs397517925
dbSNP (old)rs397517925
ClinGenrs397517925
ebirs397517925
HLIrs397517925
Exacrs397517925
Gnomadrs397517925
Varsomers397517925
Maprs397517925
PheGenIrs397517925
Biobankrs397517925
1000 genomesrs397517925
hgdprs397517925
ensemblrs397517925
gopubmedrs397517925
geneviewrs397517925
scholarrs397517925
googlers397517925
pharmgkbrs397517925
gwascentralrs397517925
openSNPrs397517925
23andMers397517925
23andMe allrs397517925
SNP Nexus

SNPshotrs397517925
SNPdbers397517925
MSV3drs397517925
GWAS Ctlgrs397517925
Max Magnitude5

rs397517925, also known as c.1373A>T, p.Asp458Val and D458V, represents a rare mutation in the USH1G gene on chromosome 17.

Inherited as an autosomal recessive, the minor allele is considered in ClinVar (and BabySeq) as likely to be pathogenic for a form of Usher syndrome (type 1G).


ClinVar
Risk Rs397517925(T;T)
Alt Rs397517925(T;T)
Reference Rs397517925(A;A)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH1G
CLNDBN Usher syndrome, type 1G
Reversed 1
HGVS NC_000017.10:g.72915558T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000041415.3,