Gene entry
ALDH7A1
aldehyde dehydrogenase 7 family member A1
- Chromosome
- 5
- Cytoband
- 5q23.2
- Variants (rsID)
- 55
ALDH7A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q23.2). Its official name is “aldehyde dehydrogenase 7 family member A1”. The reference table lists 55 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs1060856Benignsingle nucleotide variantPyridoxine-dependent epilepsy
- rs117295656Benignsingle nucleotide variantPyridoxine-dependent epilepsy|Seizure
- rs12514417Benignsingle nucleotide variantPyridoxine-dependent epilepsy|Seizure
- rs2775Benignsingle nucleotide variantPyridoxine-dependent epilepsy
- rs61757684Benignsingle nucleotide variantPyridoxine-dependent epilepsy|Seizure
- rs744720Benignsingle nucleotide variantPyridoxine-dependent epilepsy
- rs79544459Benignsingle nucleotide variantPyridoxine-dependent epilepsy
- rs900641Benignsingle nucleotide variantPyridoxine-dependent epilepsy
- rs186558364Conflicting interpretationssingle nucleotide variantPyridoxine-dependent epilepsy
- rs199767457Conflicting interpretationssingle nucleotide variantPyridoxine-dependent epilepsy
- rs368427726Conflicting interpretationssingle nucleotide variantPyridoxine-dependent epilepsy
- rs369380330Conflicting interpretationssingle nucleotide variantPyridoxine-dependent epilepsy|Seizure
- rs747643987Conflicting interpretationssingle nucleotide variantPyridoxine-dependent epilepsy
- rs777829351Conflicting interpretationssingle nucleotide variantPyridoxine-dependent epilepsy
- rs7719091Likely benignsingle nucleotide variant
- rs121912707Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy|Seizure|Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
- rs121912708Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy|Ventriculomegaly|Seizure|See cases
- rs121912710Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy
- rs121912711Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy
- rs200102503Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy
- rs372660425Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy
- rs864622557Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy
- rs864622558Pathogenicsingle nucleotide variantPyridoxine-dependent epilepsy
Other listed variants
- rs1038378
- rs2035472
- rs2306617
- rs4526102
- rs4626335
- rs4836277
- rs7703958
- rs7713264
- rs7724875
- rs7737529
- rs10519915
- rs11241901
- rs11241903
- rs11742214
- rs13182402
- rs34241005
- rs35290920
- rs62391508
- rs62391521
- rs72789715
- rs73785357
- rs75035568
- rs77057701
- rs78968720
- rs79449010
- rs141818597
- rs189459815
- rs190192782
- rs191020661
- rs368247513
- rs375707579
- rs376618299
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.