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Variant (rsID / SNP)

rs780936696

ASPA

rs780936696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPA. Location: chromosome 17, position 3,384,895. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ASPAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:3384895
Cytoband
17p13.2
HGVS
NM_000049.4(ASPA):c.237-2A>T
Allele change
Silent

Associated conditions / phenotypes

Spongy degeneration of central nervous system|Canavan Disease, Familial Form

Public references

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