Variant (rsID / SNP)

rs200102503

rs200102503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH7A1. Location: chromosome 5, position 125,882,034. Clinical significance in the table: Pathogenic.

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Reference-table entries

ALDH7A1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:125882034
Cytoband: 5q23.2
HGVS: NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)
Allele change: Missense_Y488C

Associated conditions / phenotypes

Pyridoxine-dependent epilepsy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.