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rs80338794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Finnish major Salla disease mutation carrier
(T;T) 5 Salla disease
ReferenceGRCh38 38.1/141
Chromosome6
Position73644583
GeneSLC17A5
is asnp
is mentioned by
dbSNPrs80338794
ebirs80338794
HLIrs80338794
Exacrs80338794
Varsomers80338794
Maprs80338794
PheGenIrs80338794
hapmaprs80338794
1000 genomesrs80338794
hgdprs80338794
ensemblrs80338794
gopubmedrs80338794
geneviewrs80338794
scholarrs80338794
googlers80338794
pharmgkbrs80338794
gwascentralrs80338794
openSNPrs80338794
23andMers80338794
23andMe allrs80338794
SNP Nexus

SNPshotrs80338794
SNPdbers80338794
MSV3drs80338794
GWAS Ctlgrs80338794
GMAF0.0009183
Max Magnitude5

rs80338794, also known as R39C or Arg39Cys, is a rare mutation in the sialin protein SLC17A5 gene leading to Salla disease, a neurodegenerative disease primarily associated with Finland and Sweden.

Note that 23andMe reports this from the other strand as a G>A SNP rather than a C>T as defined in dbSNP.

OMIM604322
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338794(T;T)
Alt rs80338794(T;T)
Reference rs80338794(C;C)
Significance Pathogenic
Disease Salla disease
Variation info
Gene SLC17A5
CLNDBN Salla disease
Reversed 1
HGVS NC_000006.11:g.74354306G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005967.4,


[PMID 10581036] A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.


[PMID 10947946OA-icon.png] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.


[PMID 11992753] Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.


[PMID 12794688] Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.


[PMID 16170568] Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.