Variant (rsID / SNP)
rs121912710
rs121912710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH7A1. Location: chromosome 5, position 125,887,806. Clinical significance in the table: Pathogenic.
Reference-table entries
ALDH7A1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:125887806
- Cytoband
- 5q23.2
- HGVS
- NM_001182.5(ALDH7A1):c.1224T>G (p.Tyr408Ter)
- Allele change
- Nonsense_Y380X
Associated conditions / phenotypes
Pyridoxine-dependent epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.