Variant (rsID / SNP)

rs747643987

rs747643987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH7A1. Location: chromosome 5, position 125,929,088. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ALDH7A1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:125929088
Cytoband: 5q23.2
HGVS: NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=)
Allele change: Synonymous_T39T

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.