The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000212.2(ITGB3):c.856G>C (p.Gly286Arg)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA400024919
627151 (ClinVar)
Gene: ITGB3
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: 183a5591-df94-4c12-9ca7-29615d9ff1eb
Approved on: 2022-08-05
Published on: 2022-12-07
HGVS expressions
NM_000212.2:c.856G>C
NM_000212.2(ITGB3):c.856G>C (p.Gly286Arg)
NC_000017.11:g.47287148G>C
CM000679.2:g.47287148G>C
NC_000017.10:g.45364514G>C
CM000679.1:g.45364514G>C
NC_000017.9:g.42719513G>C
NG_008332.2:g.38307G>C
ENST00000559488.7:c.856G>C
ENST00000559488.5:c.856G>C
ENST00000560629.1:n.821G>C
ENST00000571680.1:c.856G>C
NM_000212.3:c.856G>C
NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg)
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Evidence submitted by expert panel
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