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_001754.5(RUNX1):c.247dup (p.Ala83fs)
CA2499225883
1073907 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: a17cc2cb-3b5c-4d98-8710-4f50cc98af79
HGVS expressions
NM_001754.5:c.247dup
NM_001754.5(RUNX1):c.247dup (p.Ala83fs)
NC_000021.9:g.34886948dup
CM000683.2:g.34886948dup
NC_000021.8:g.36259245dup
CM000683.1:g.36259245dup
NC_000021.7:g.35181115dup
NG_011402.2:g.1102765dup
ENST00000675419.1:c.247dup
ENST00000300305.7:c.247dup
ENST00000344691.8:c.166dup
ENST00000358356.9:c.166dup
ENST00000399237.6:c.211dup
ENST00000399240.5:c.166dup
ENST00000437180.5:c.247dup
ENST00000455571.5:c.208dup
ENST00000482318.5:c.59-6234dup
NM_001001890.2:c.166dup
NM_001122607.1:c.166dup
NM_001754.4:c.247dup
NM_001001890.3:c.166dup
NM_001122607.2:c.166dup
Evidence submitted by expert panel
Approved on: 2023-12-09
Published on: 2023-12-09
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