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Variant (rsID / SNP)

rs142553916

SLC17A5

rs142553916 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,331,606. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC17A5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:74331606
Cytoband
6q13
HGVS
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
Allele change
Missense_S300F

Associated conditions / phenotypes

Sialic acid storage disease, severe infantile type|Salla disease|Salla disease|Sialic acid storage disease, severe infantile type|Familial hypokalemia-hypomagnesemia

Public references

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