Variant (rsID / SNP)

rs104894553

rs104894553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASPA. Location: chromosome 17, position 3,379,665. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ASPAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:3379665
Cytoband: 17p13.2
HGVS: NM_000049.4(ASPA):c.212G>A (p.Arg71His)
Allele change: Silent

Associated conditions / phenotypes

Mild Canavan disease|Spongy degeneration of central nervous system

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.