|| common in clinvar
|| Finnish major Salla disease mutation carrier
|| Salla disease
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.
[PMID 10581036] A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
[PMID 10947946] 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.