Variant (rsID / SNP)
rs144109267
rs144109267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP4V2. Location: chromosome 4, position 187,130,414. Clinical significance in the table: Pathogenic.
Reference-table entries
CYP4V2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:187130414
- Cytoband
- 4q35.2
- HGVS
- NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly)
- Allele change
- Missense_R465G
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.