NM_000419.5(ITGA2B):c.2841+13_2841+33del AND Glanzmann thrombasthenia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003837831.2
Allele description [Variation Report for NM_000419.5(ITGA2B):c.2841+13_2841+33del]
NM_000419.5(ITGA2B):c.2841+13_2841+33del
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
-
olfactory receptor 56A3 isoform X1 [Homo sapiens]
olfactory receptor 56A3 isoform X1 [Homo sapiens]gi|2217282803|ref|XP_047282882.1|Protein
-
RecName: Full=E3 ubiquitin-protein ligase siah-1; AltName: Full=RING-type E3 ubi...
RecName: Full=E3 ubiquitin-protein ligase siah-1; AltName: Full=RING-type E3 ubiquitin transferase SIAH1; AltName: Full=Seven in absentia homolog 1gi|363548505|sp|Q965X6.3|SIAH1_CAEEProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024