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rs117447608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 Pathogenicity unclear; possible carrier of a Joubert syndrome mutation
(G;G) 0 common in clinvar


Make rs117447608(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position135318577
GeneAHI1
is asnp
is mentioned by
dbSNPrs117447608
ClinGenrs117447608
ebirs117447608
HLIrs117447608
Exacrs117447608
Varsomers117447608
Maprs117447608
PheGenIrs117447608
hapmaprs117447608
1000 genomesrs117447608
hgdprs117447608
ensemblrs117447608
gopubmedrs117447608
geneviewrs117447608
scholarrs117447608
googlers117447608
pharmgkbrs117447608
gwascentralrs117447608
openSNPrs117447608
23andMers117447608
23andMe allrs117447608
SNP Nexus

SNPshotrs117447608
SNPdbers117447608
MSV3drs117447608
GWAS Ctlgrs117447608
Max Magnitude2

rs117447608, also known as c.3368C>T, p.Ser1123Phe and S1123F, represents a variant in the AHI1 gene on chromosome 6. The frequency of the minor allele is around 0.5% - 1% in most populations.

The minor allele, rs117447608(A) in dbSNP orientation, is reported as a "likely pathogenic" mutation in a 2014 publication, in which it was seen together with another AHI1 gene variant, C854F, in a 4 year old patient diagnosed as having autosomal recessive Joubert's syndrome type 3.[PMID 25326637OA-icon.png]

Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns, but may be underdiagnosed.([1]) A frequency of 1% for rs117447608(A) would appear to be too high to be consistent with a highly penetrant mutation for a Joubert syndrome subtype, so this variant probably awaits further study and clarification as to it's pathogenicity if any.


ClinVar
Risk rs117447608(A;A)
Alt rs117447608(A;A)
Reference Rs117447608(G;G)
Significance Probable-Pathogenic
Disease not specified Joubert syndrome 3 not provided
Variation info
Gene AHI1
CLNDBN not specified Joubert syndrome 3 not provided
Reversed 0
HGVS NC_000006.11:g.135639715G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000081799.5, RCV000200234.1, RCV000444551.1,