Variant (rsID / SNP)
rs199767457
rs199767457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH7A1. Location: chromosome 5, position 125,891,700. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ALDH7A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:125891700
- Cytoband
- 5q23.2
- HGVS
- NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg)
- Allele change
- Missense_H311R
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.