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.149_158dup (p.Ser53fs)
CA2499225884
1076589 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 958ee78c-9ff5-4a1b-9767-efe5c139a0f8
HGVS expressions
NM_001754.5:c.149_158dup
NM_001754.5(RUNX1):c.149_158dup (p.Ser53fs)
NC_000021.9:g.34887038_34887047dup
CM000683.2:g.34887038_34887047dup
NC_000021.8:g.36259335_36259344dup
CM000683.1:g.36259335_36259344dup
NC_000021.7:g.35181205_35181214dup
NG_011402.2:g.1102667_1102676dup
ENST00000675419.1:c.149_158dup
ENST00000300305.7:c.149_158dup
ENST00000344691.8:c.68_77dup
ENST00000358356.9:c.68_77dup
ENST00000399237.6:c.113_122dup
ENST00000399240.5:c.68_77dup
ENST00000437180.5:c.149_158dup
ENST00000455571.5:c.110_119dup
ENST00000482318.5:c.59-6332_59-6323dup
NM_001001890.2:c.68_77dup
NM_001122607.1:c.68_77dup
NM_001754.4:c.149_158dup
NM_001001890.3:c.68_77dup
NM_001122607.2:c.68_77dup
Evidence submitted by expert panel
Approved on: 2022-07-05
Published on: 2022-07-05
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