NM_000130.5(F5):c.5245C>G (p.Leu1749Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001270592.2
Allele description [Variation Report for NM_000130.5(F5):c.5245C>G (p.Leu1749Val)]
NM_000130.5(F5):c.5245C>G (p.Leu1749Val)
Condition(s)
- Name:
- Abnormal bleeding
- Identifiers:
- MedGen: C1458140; Human Phenotype Ontology: HP:0001892
- Name:
- Thrombocytopenia
- Identifiers:
- MONDO: MONDO:0002049; MeSH: D013921; MedGen: C0040034; Human Phenotype Ontology: HP:0001873
Assertion and evidence details
Last Updated: Sep 29, 2024