NM_198291.3(SRC):c.1579G>A (p.Glu527Lys) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003535.1
Allele description [Variation Report for NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)]
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
Condition(s)
- Name:
- Primary myelofibrosis
- Synonyms:
- Myelofibrosis, somatic; Suspected idiopathic myelofibrosis
- Identifiers:
- MONDO: MONDO:0009692; MeSH: D055728; MedGen: C0001815; Orphanet: 824; OMIM: 254450
- Name:
- Osteoporosis
- Identifiers:
- MONDO: MONDO:0005298; MedGen: C0029456; OMIM: 166710; Human Phenotype Ontology: HP:0000939
- Name:
- Thrombocytopenia
- Identifiers:
- MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873
Assertion and evidence details
Last Updated: May 7, 2024