Variant (rsID / SNP)
rs374259530
rs374259530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADSL. Location: chromosome 22, position 40,746,022. Clinical significance in the table: Pathogenic.
Reference-table entries
ADSLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:40746022
- Cytoband
- 22q13.1
- HGVS
- NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
- Allele change
- Missense_Y114H
Associated conditions / phenotypes
Adenylosuccinate lyase deficiency|Progressive neurologic deterioration|Inability to walk|Generalized myoclonic seizure|Difficulty standing|Severe global developmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.