Variant (rsID / SNP)

rs121912707

rs121912707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH7A1. Location: chromosome 5, position 125,887,751. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ALDH7A1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:125887751
Cytoband: 5q23.2
HGVS: NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
Allele change: Missense_E399Q

Associated conditions / phenotypes

Pyridoxine-dependent epilepsy|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant

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.