Variant (rsID / SNP)

rs386833994

rs386833994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC17A5. Location: chromosome 6, position 74,345,108. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC17A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 6:74345108
Cytoband: 6q13
HGVS: NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)

Associated conditions / phenotypes

Sialic acid storage disease, severe infantile type|Salla disease

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.