NM_004972.4(JAK2):c.2490G>A (p.Leu830=) AND Budd-Chiari syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000349925.1
Allele description
NM_004972.4(JAK2):c.2490G>A (p.Leu830=)
Condition(s)
- Name:
- Budd-Chiari syndrome (BDCHS)
- Synonyms:
- Hepatic vein obstruction; Hepatic veno-occlusive disease
- Identifiers:
- MedGen: C0856761; Orphanet: 131; OMIM: 600880; Human Phenotype Ontology: HP:0002639
Assertion and evidence details
Last Updated: Apr 18, 2020