NM_000130.5(F5):c.*1257A>C AND Budd-Chiari syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001099006.4
Allele description [Variation Report for NM_000130.5(F5):c.*1257A>C]
NM_000130.5(F5):c.*1257A>C
Condition(s)
- Name:
- Budd-Chiari syndrome (BDCHS)
- Synonyms:
- Hepatic vein obstruction
- Identifiers:
- MONDO: MONDO:0010947; MedGen: C0856761; Orphanet: 131; OMIM: 600880; Human Phenotype Ontology: HP:0002639
Assertion and evidence details
Last Updated: Sep 16, 2024