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rs111033258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 5 Usher syndrome Type III
(G;T) 3 carrier of Usher syndrome Type III allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position150972565
GeneCLRN1, CLRN1-AS1
is asnp
is mentioned by
dbSNPrs111033258
ebirs111033258
HLIrs111033258
Exacrs111033258
Varsomers111033258
Maprs111033258
PheGenIrs111033258
hapmaprs111033258
1000 genomesrs111033258
hgdprs111033258
ensemblrs111033258
gopubmedrs111033258
geneviewrs111033258
scholarrs111033258
googlers111033258
pharmgkbrs111033258
gwascentralrs111033258
openSNPrs111033258
23andMers111033258
23andMe allrs111033258
SNP Nexus

SNPshotrs111033258
SNPdbers111033258
MSV3drs111033258
GWAS Ctlgrs111033258
Merged fromRs28939091
Max Magnitude5

rs111033258, also known as N48K or Asn48Lys, is a SNP in the clarin 1 CLRN1 gene on chromosome 3.

Most common in Ashkenazi Jews, the risk allele rs111033258(G) leads to Usher Syndrome Type III if inherited in two copies. Note that in 23andMe, the orientation is reversed from dbSNP, so the risk allele for the equivalent SNP, i4990151, is (C).

OMIM606397
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033258(G;G)
Alt rs111033258(G;G)
Reference rs111033258(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CLRN1-AS1 CLRN1
CLNDBN Usher syndrome, type 3A
Reversed 1
HGVS NC_000003.11:g.150690352A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004645.8,


[PMID 12080385] USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.


[PMID 12145752OA-icon.png] Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.


[PMID 14569126OA-icon.png] Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.