NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) AND Glanzmann thrombasthenia
- Germline classification:
- Likely benign (3 submissions)
- Last evaluated:
- Jun 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001128134.9
Allele description [Variation Report for NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)]
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)
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
-
2-oxoglutarate receptor 1 [Homo sapiens]
2-oxoglutarate receptor 1 [Homo sapiens]gi|52426789|ref|NP_543008.3|Protein
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Last Updated: Oct 13, 2024