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Rs111033260

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Orientationplus
is asnp
is mentioned by
dbSNPrs111033260
PheGenIrs111033260
hapmaprs111033260
1000 genomesrs111033260
hgdprs111033260
ensemblrs111033260
gopubmedrs111033260
geneviewrs111033260
scholarrs111033260
googlers111033260
pharmgkbrs111033260
gwascentralrs111033260
openSNPrs111033260
23andMers111033260
23andMe allrs111033260
SNP Nexus

SNPshotrs111033260
SNPdbers111033260
MSV3drs111033260
GenePCDH15
Chromosome10
Orientationplus
Position54317414
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033260(C;T)
Make rs111033260(T;T)
OMIM605514
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033260(T;T)
Alt rs111033260(T;T)
Reference rs111033260(C;C)
Significance 5
Disease Usher syndrome, Hereditary hearing loss and deafness, Retinitis pigmentosa-deafness syndrome, Usher syndrome
ClinVar info
Gene PCDH15
CLNDBN Usher syndrome, type 1F, Hereditary hearing loss and deafness, Retinitis pigmentosa-deafness syndrome, Usher syndrome, type 1G
Reversed 1
CLNHGVS NC_000010.10:g.56077174G>A
CLNSRC GeneReviews, OMIM Allelic Variant
CLNACC RCV000005218.1, RCV000039771.1, RCV000055970.1


[PMID 12711741] A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.


[PMID 15028842] The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.