Variant (rsID / SNP)

rs137854540

rs137854540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSA. Location: chromosome 20, position 44,526,707. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CTSALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:44526707
Cytoband: 20q13.12
HGVS: NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)
Allele change: Missense_F458V

Associated conditions / phenotypes

Galactosialidosis, late infantile|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.