NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) AND Glanzmann thrombasthenia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001290457.1
Allele description [Variation Report for NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)]
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro)
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: Sep 29, 2024