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.
CA10014591
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 5a3a40ef-ba6a-45c4-9b10-6ea243107987
Approved on: 2022-01-20
Published on: 2022-06-30
HGVS expressions
NM_001754.5:c.110G>T
NC_000021.9:g.34887084C>A
CM000683.2:g.34887084C>A
NC_000021.8:g.36259381C>A
CM000683.1:g.36259381C>A
NC_000021.7:g.35181251C>A
NG_011402.2:g.1102628G>T
ENST00000675419.1:c.110G>T
ENST00000300305.7:c.110G>T
ENST00000344691.8:c.29G>T
ENST00000358356.9:c.29G>T
ENST00000399237.6:c.74G>T
ENST00000399240.5:c.29G>T
ENST00000437180.5:c.110G>T
ENST00000455571.5:c.71G>T
ENST00000475045.6:c.110G>T
ENST00000482318.5:c.59-6371G>T
NM_001001890.2:c.29G>T
NM_001122607.1:c.29G>T
NM_001754.4:c.110G>T
NM_001001890.3:c.29G>T
NM_001122607.2:c.29G>T
Evidence submitted by expert panel
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