Variant (rsID / SNP)

rs786200859

rs786200859 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSA. Location: chromosome 20, position 44,521,953. Clinical significance in the table: Pathogenic.

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Reference-table entries

CTSAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:44521953
Cytoband: 20q13.12
HGVS: NM_000308.4(CTSA):c.692+3A>G
Allele change: Silent

Associated conditions / phenotypes

Galactosialidosis, adult|Combined deficiency of sialidase AND beta galactosidase

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.