The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_001754.5(RUNX1):c.*3642C>T
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA1139666828
897093 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 139d0994-4b3d-40cf-8ec7-22368f728c97
Approved on: 2024-11-13
Published on: 2024-11-13
HGVS expressions
NM_001754.5:c.*3642C>T
NM_001754.5(RUNX1):c.*3642C>T
NC_000021.9:g.34788493G>A
CM000683.2:g.34788493G>A
NC_000021.8:g.36160790G>A
CM000683.1:g.36160790G>A
NC_000021.7:g.35082660G>A
NG_011402.2:g.1201219C>T
ENST00000675419.1:c.*3642C>T
ENST00000300305.7:c.*3642C>T
ENST00000344691.8:c.*3642C>T
ENST00000437180.5:c.*3642C>T
NM_001001890.2:c.*3642C>T
NM_001754.4:c.*3642C>T
NM_001001890.3:c.*3642C>T
More
Evidence submitted by expert panel
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