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rs55843567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs55843567(C;T)
Make rs55843567(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17527331
GeneUSH1C
is asnp
is mentioned by
dbSNPrs55843567
ebirs55843567
HLIrs55843567
Exacrs55843567
Varsomers55843567
Maprs55843567
PheGenIrs55843567
hapmaprs55843567
1000 genomesrs55843567
hgdprs55843567
ensemblrs55843567
gopubmedrs55843567
geneviewrs55843567
scholarrs55843567
googlers55843567
pharmgkbrs55843567
gwascentralrs55843567
openSNPrs55843567
23andMers55843567
23andMe allrs55843567
SNP Nexus

SNPshotrs55843567
SNPdbers55843567
MSV3drs55843567
GWAS Ctlgrs55843567
GMAF0.01469
Max Magnitude0
OMIM605242
Desc
Variant0010
Relatedalso


ClinVar
Risk rs55843567(T;T)
Alt rs55843567(T;T)
Reference rs55843567(C;C)
Significance Non-pathogenic
Disease Usher syndrome not specified
Variation info
Gene USH1C
CLNDBN Usher syndrome, type 1C not specified
Reversed 0
HGVS NC_000011.9:g.17548878C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005456.4, RCV000041291.2,



[PMID 12702164] The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.


GET Evidence
USH1C-V130I
aa_change Val130Ile
aa_change_short V130I
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0166388
summary This moderately common variant (1000 genomes allele frequency of 6.2%) was reported found heterozygously in a patient with Usher syndrome. However, the high allele frequency and fact that it is a conservative amino acid change supports classifying this variant as benign.