rs117447608
Orientation | plus |
Stabilized | 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 |
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, |