rs117447608

plus

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)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

135318577

Gene

AHI1

is a	snp
is	mentioned by
dbSNP	rs117447608
dbSNP (classic)	rs117447608
ClinGen	rs117447608
ebi	rs117447608
HLI	rs117447608
Exac	rs117447608
Gnomad	rs117447608
Varsome	rs117447608
LitVar	rs117447608
Map	rs117447608
PheGenI	rs117447608
Biobank	rs117447608
1000 genomes	rs117447608
hgdp	rs117447608
ensembl	rs117447608
geneview	rs117447608
scholar	rs117447608
google	rs117447608
pharmgkb	rs117447608
gwascentral	rs117447608
openSNP	rs117447608
23andMe	rs117447608
SNPshot	rs117447608
SNPdbe	rs117447608
MSV3d	rs117447608
GWAS Ctlg	rs117447608

Max Magnitude

2

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 25326637 ]

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,