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.215_216dup (p.Ser73fs)
CA658656806
463988 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 1d884ce0-9d6e-40e7-a2aa-6f0ff56bae4c
Approved on: 2024-03-26
Published on: 2024-03-26
HGVS expressions
NM_001754.5:c.215_216dup
NM_001754.5(RUNX1):c.215_216dup (p.Ser73fs)
NC_000021.9:g.34886978_34886979dup
CM000683.2:g.34886978_34886979dup
NC_000021.8:g.36259275_36259276dup
CM000683.1:g.36259275_36259276dup
NC_000021.7:g.35181145_35181146dup
NG_011402.2:g.1102733_1102734dup
ENST00000675419.1:c.215_216dup
ENST00000300305.7:c.215_216dup
ENST00000344691.8:c.134_135dup
ENST00000358356.9:c.134_135dup
ENST00000399237.6:c.179_180dup
ENST00000399240.5:c.134_135dup
ENST00000437180.5:c.215_216dup
ENST00000455571.5:c.176_177dup
ENST00000482318.5:c.59-6266_59-6265dup
NM_001001890.2:c.134_135dup
NM_001122607.1:c.134_135dup
NM_001754.4:c.215_216dup
NM_001001890.3:c.134_135dup
NM_001122607.2:c.134_135dup
Evidence submitted by expert panel
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