NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) AND Dihydropyrimidine dehydrogenase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000671470.4
Allele description [Variation Report for NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)]
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)
Condition(s)
- Name:
- Dihydropyrimidine dehydrogenase deficiency (DPYDD)
- Synonyms:
- DPYD DEFICIENCY; DPD deficiency; Pyrimidinemia familial; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010130; MedGen: C1959620; Orphanet: 1675; OMIM: 274270
Assertion and evidence details
Last Updated: Jun 23, 2024