Variant (rsID / SNP)
rs2238731
rs2238731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRODH. Location: chromosome 22, position 18,905,977. Clinical significance in the table: Benign.
Reference-table entries
PRODHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:18905977
- Cytoband
- 22q11.21
- HGVS
- NM_016335.6(PRODH):c.1279G>A (p.Val427Met)
- Allele change
- Missense_V427M
Associated conditions / phenotypes
Proline dehydrogenase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.