Variant (rsID / SNP)
rs41310410
rs41310410 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALDH4A1. Location: chromosome 1, position 19,203,961. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ALDH4A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:19203961
- Cytoband
- 1p36.13
- HGVS
- NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
- Allele change
- Synonymous_P362P
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.
