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.166_196del (p.Leu56fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA913189256
978818 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Inheritance Mode: Autosomal dominant inheritance
UUID: e04d2c7a-112a-4963-afd5-2ef16d750b0a
Approved on: 2023-12-09
Published on: 2023-12-09
HGVS expressions
NM_001754.5:c.166_196delTTGCCGCTGGGCGCCCCGGACGCCGGCGCTG
NM_001754.5:c.166_196del
NM_001754.5(RUNX1):c.166_196del (p.Leu56fs)
NC_000021.9:g.34886999_34887029del
CM000683.2:g.34886999_34887029del
NC_000021.8:g.36259296_36259326del
CM000683.1:g.36259296_36259326del
NC_000021.7:g.35181166_35181196del
NG_011402.2:g.1102684_1102714del
ENST00000675419.1:c.166_196del
ENST00000300305.7:c.166_196del
ENST00000344691.8:c.85_115del
ENST00000358356.9:c.85_115del
ENST00000399237.6:c.130_160del
ENST00000399240.5:c.85_115del
ENST00000437180.5:c.166_196del
ENST00000455571.5:c.127_157del
ENST00000482318.5:c.59-6315_59-6285del
NM_001001890.2:c.85_115del
NM_001122607.1:c.85_115del
NM_001754.4:c.166_196del
NM_001001890.3:c.85_115del
NM_001122607.2:c.85_115del
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Evidence submitted by expert panel
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