Variant (rsID / SNP)
rs2230707
rs2230707 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH4A1. Location: chromosome 1, position 19,202,896. Clinical significance in the table: Benign.
Reference-table entries
ALDH4A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:19202896
- Cytoband
- 1p36.13
- HGVS
- NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)
- Allele change
- Synonymous_A417A
Associated conditions / phenotypes
Deficiency of pyrroline-5-carboxylate reductase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.