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.761A>G (p.Gln254Arg)
- Curation Version - 2.0
- Curation History
- JSON LD for Version 2.0
CA400023678
627131 (ClinVar)
Gene: ITGB3
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: 7ebcee0b-01ec-4a5f-aefc-a7c698f2c6f6
Approved on: 2023-12-19
Published on: 2023-12-19
HGVS expressions
NM_000212.2:c.761A>G
NM_000212.2(ITGB3):c.761A>G (p.Gln254Arg)
NC_000017.11:g.47286406A>G
CM000679.2:g.47286406A>G
NC_000017.10:g.45363772A>G
CM000679.1:g.45363772A>G
NC_000017.9:g.42718771A>G
NG_008332.2:g.37565A>G
ENST00000559488.7:c.761A>G
ENST00000559488.5:c.761A>G
ENST00000560629.1:c.726A>G
ENST00000571680.1:c.761A>G
NM_000212.3:c.761A>G
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg)
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Evidence submitted by expert panel
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