Variant (rsID / SNP)

rs794729653

rs794729653 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,351,530. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC17A5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 6:74351530
Cytoband: 6q13
HGVS: NM_012434.5(SLC17A5):c.409del (p.Met137fs)

Associated conditions / phenotypes

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.