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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- See Evidence submitted by expert panel for details.
Variant: NM_001754.4(RUNX1):c.*2193del
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10644627
339838 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 7069eaf3-7f60-45ec-b776-128e1fbd7466
Approved on: 2020-05-13
Published on: 2020-06-02
HGVS expressions
NM_001754.4:c.*2193delG
NM_001754.4:c.*2193del
NM_001754.4(RUNX1):c.*2193del
NM_001001890.2:c.*2193del
NM_001001890.3:c.*2193del
ENST00000300305.7:c.*2193del
ENST00000344691.8:c.*2193del
ENST00000437180.5:c.*2193del
NC_000021.9:g.34789942del
CM000683.2:g.34789942del
NC_000021.8:g.36162239del
CM000683.1:g.36162239del
NC_000021.7:g.35084109del
NG_011402.2:g.1199770del
Evidence submitted by expert panel
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