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rs111033367

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 5 Usher syndrome, type 2A
(-;CT) 3 Carrier of an Usher syndrome type 2A mutation
(CT;CT) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome1
Position216190280
GeneUSH2A
is asnp
is mentioned by
dbSNPrs111033367
dbSNP (old)rs111033367
ClinGenrs111033367
ebirs111033367
HLIrs111033367
Exacrs111033367
Gnomadrs111033367
Varsomers111033367
Maprs111033367
PheGenIrs111033367
Biobankrs111033367
1000 genomesrs111033367
hgdprs111033367
ensemblrs111033367
gopubmedrs111033367
geneviewrs111033367
scholarrs111033367
googlers111033367
pharmgkbrs111033367
gwascentralrs111033367
openSNPrs111033367
23andMers111033367
23andMe allrs111033367
SNPshotrs111033367
SNPdbers111033367
MSV3drs111033367
GWAS Ctlgrs111033367
Max Magnitude5

aka c.4338_4339delCT (p.Cys1447Glnfs)

This mutation in the USH2A gene is the major cause of Usher syndrome type 2a in Canadians of French origin (and is therefore considered a founder mutation in that population). {{PMID|18665195|OA=1]]

ClinVar
Risk Rs111033367(-;-)
Alt Rs111033367(-;-)
Reference Rs111033367(CT;CT)
Significance Pathogenic
Disease Usher syndrome USH2A-Related Disorders
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A USH2A-Related Disorders
Reversed 1
HGVS NC_000001.10:g.216363622_216363623delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002447.6, RCV000310917.1,


[PMID 10729113OA-icon.png] Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

[PMID 18665195OA-icon.png] An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.