Variant (rsID / SNP)
rs137854547
rs137854547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSA. Location: chromosome 20, position 44,526,704. Clinical significance in the table: Pathogenic.
Reference-table entries
CTSAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:44526704
- Cytoband
- 20q13.12
- HGVS
- NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser)
- Allele change
- Missense_G457S
Associated conditions / phenotypes
Galactosialidosis, early infantile
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.