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rs35583475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 1 Likely to be a benign polymorphism
(G;G) 0 common in clinvar
(G;T) 3 Carrier of an Andermann syndrome mutation


Make rs35583475(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position34254503
GeneSLC12A6
is asnp
is mentioned by
dbSNPrs35583475
dbSNP (classic)rs35583475
ClinGenrs35583475
ebirs35583475
HLIrs35583475
Exacrs35583475
Gnomadrs35583475
Varsomers35583475
LitVarrs35583475
Maprs35583475
PheGenIrs35583475
Biobankrs35583475
1000 genomesrs35583475
hgdprs35583475
ensemblrs35583475
geneviewrs35583475
scholarrs35583475
googlers35583475
pharmgkbrs35583475
gwascentralrs35583475
openSNPrs35583475
23andMers35583475
SNPshotrs35583475
SNPdbers35583475
MSV3drs35583475
GWAS Ctlgrs35583475
Max Magnitude3

aka c.963C>A (p.Tyr321Ter or Y321X) and also c.963C>T (p.Tyr321=); the latter is annotated in ClinVar as likely to be benign, while the former has been reported as likely to be pathogenic for Andermann syndrome, a recessively inherited disorder.

Note that the ref and alt alleles that are tested by both Ancestry and 23andMe are G and A, respectively, which means they represent the benign c.963C>T variant, since the alleles are reported by these companies based on the forward/plus strand, whereas the cDNA for the SLC12A6 gene is reported on the reverse/minus strand.


ClinVar
Risk rs35583475(A;A) rs35583475(T;T)
Alt rs35583475(A;A) rs35583475(T;T)
Reference Rs35583475(G;G)
Significance Probable-Pathogenic
Disease not specified Andermann syndrome
Variation info
Gene SLC12A6
CLNDBN not specified Andermann syndrome
Reversed 0
HGVS NC_000015.9:g.34546704G>A; NC_000015.9:g.34546704G>T
CLNSRC
CLNACC RCV000147490.2, RCV000401210.1, RCV000409555.1,