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.497G>A (p.Arg166Gln)
CA16616941
417961 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: ba8c0c9c-028c-473b-9259-a8316db5b16d
HGVS expressions
NM_001754.4:c.497G>A
NM_001754.4(RUNX1):c.497G>A (p.Arg166Gln)
NC_000021.9:g.34880568C>T
CM000683.2:g.34880568C>T
NC_000021.8:g.36252865C>T
CM000683.1:g.36252865C>T
NC_000021.7:g.35174735C>T
NG_011402.2:g.1109144G>A
NM_001001890.2:c.416G>A
NM_001122607.1:c.416G>A
ENST00000300305.7:c.497G>A
ENST00000344691.8:c.416G>A
ENST00000358356.9:c.416G>A
ENST00000399237.6:c.461G>A
ENST00000399240.5:c.416G>A
ENST00000437180.5:c.497G>A
ENST00000482318.5:c.*87G>A
Evidence submitted by expert panel
Approved on: 2019-07-30
Published on: 2019-08-02
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