Variant (rsID / SNP)
rs80338815
rs80338815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,065,593. Clinical significance in the table: Pathogenic.
Reference-table entries
ARSAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:51065593
- Cytoband
- 22q13.33
- HGVS
- NM_000487.6(ARSA):c.465+1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Metachromatic leukodystrophy, adult type|Metachromatic leukodystrophy, juvenile type|Metachromatic leukodystrophy|Intellectual disability|Inborn genetic diseases|Neurodevelopmental disorder|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.