Variant (rsID / SNP)

rs137854544

rs137854544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSA. Location: chromosome 20, position 44,522,679. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CTSAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:44522679
Cytoband: 20q13.12
HGVS: NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)
Allele change: Missense_Y267N

Associated conditions / phenotypes

Combined deficiency of sialidase AND beta galactosidase|Galactosialidosis, late infantile

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.