Variant (rsID / SNP)

rs201284672

rs201284672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,331,587. 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: 6:74331587
Cytoband: 6q13
HGVS: NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
Allele change: Nonsense_Y306X

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.