NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000416478.1
Allele description [Variation Report for NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)]
NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser)
Condition(s)
- Name:
- Duodenal atresia
- Synonyms:
- Duodenal atresia (disease)
- Identifiers:
- MONDO: MONDO:0009126; MedGen: C0266174; Orphanet: 1203; OMIM: 223400; Human Phenotype Ontology: HP:0002247
- Name:
- Asplenia
- Identifiers:
- MedGen: C5779621; Human Phenotype Ontology: HP:0001746
- Name:
- Reduced number of intrahepatic bile ducts
- Identifiers:
- MedGen: C4021591; Human Phenotype Ontology: HP:0006571
- Name:
- Abnormal biliary tract morphology
- Identifiers:
- MedGen: C4021086; Human Phenotype Ontology: HP:0012440
Assertion and evidence details
Last Updated: Sep 8, 2024