Variant (rsID / SNP)

rs80338794

rs80338794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,354,306. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC17A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:74354306
Cytoband: 6q13
HGVS: NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
Allele change: Missense_R39C

Associated conditions / phenotypes

Salla disease|Sialic acid storage disease, severe infantile type|Salla disease|Sialic acid storage disease, severe infantile type

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.