NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer) AND Dihydropyrimidine dehydrogenase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 3, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409377.2
Allele description [Variation Report for NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer)]
NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer)
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
-
dual specificity mitogen-activated protein kinase kinase 1 isoform 1 [Mus muscul...
dual specificity mitogen-activated protein kinase kinase 1 isoform 1 [Mus musculus]gi|6678794|ref|NP_032953.1|Protein
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See more...Assertion and evidence details
Last Updated: Nov 4, 2023