Variant (rsID / SNP)

rs121912708

rs121912708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH7A1. Location: chromosome 5, position 125,919,689. 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: 5:125919689
Cytoband: 5q23.2
HGVS: NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)
Allele change: Nonsense_R82X

Associated conditions / phenotypes

Pyridoxine-dependent epilepsy|Ventriculomegaly|Seizure|See cases

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.