NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) AND Glanzmann thrombasthenia
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001128136.5
Allele description [Variation Report for NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)]
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=)
Condition(s)
- Name:
- Glanzmann thrombasthenia
- Synonyms:
- PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY; Thrombasthenia of Glanzmann and Naegeli; Glanzmann thrombasthenia type A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100326; MedGen: C0040015; Orphanet: 849; OMIM: PS273800
Assertion and evidence details
Last Updated: Feb 20, 2024