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rs41298135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41298135(A;A)
Make rs41298135(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77158332
GeneMYO7A
is asnp
is mentioned by
dbSNPrs41298135
dbSNP (old)rs41298135
ClinGenrs41298135
ebirs41298135
HLIrs41298135
Exacrs41298135
Gnomadrs41298135
Varsomers41298135
Maprs41298135
PheGenIrs41298135
Biobankrs41298135
1000 genomesrs41298135
hgdprs41298135
ensemblrs41298135
gopubmedrs41298135
geneviewrs41298135
scholarrs41298135
googlers41298135
pharmgkbrs41298135
gwascentralrs41298135
openSNPrs41298135
23andMers41298135
23andMe allrs41298135
SNP Nexus

SNPshotrs41298135
SNPdbers41298135
MSV3drs41298135
GWAS Ctlgrs41298135
GMAF0.001377
Max Magnitude0
OMIM276903
Desc
Variant0006
Relatedalso


ClinVar
Risk rs41298135(A;A) rs41298135(T;T)
Alt rs41298135(A;A) rs41298135(T;T)
Reference Rs41298135(G;G)
Significance Other
Disease Usher syndrome not specified Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1B not specified Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome
Reversed 0
HGVS NC_000011.9:g.76869378G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012626.19, RCV000036251.3, RCV000282374.1, RCV000337254.1, RCV000386045.1,



GET Evidence
MYO7A-R302H
aa_change Arg302His
aa_change_short R302H
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.00170487
summary Weston, et al. 1996 reported seeing this on the same DNA strand with another variant in a couple cases of Usher Type I syndrome. That other variant was believed to cause disease in a recessive manner, while this variant was speculated to be coincidental observed. ExAC allele frequency data confirms that this variant is merely uncommon in Europeans (1 in 170 are carriers). If it were causal, it would be a well-established cause; the lack of such evidence in the literature confirms that the variant is not a "Mendelian" cause of Usher Type I syndrome.