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 computer assertion could be determined for this classification!
Variant: NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA1139666837
931873 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 41b15e95-a09a-4f42-97bf-6ddbb6576d89
Approved on: 2024-08-28
Published on: 2024-08-28
HGVS expressions
NM_001754.5:c.1277_1278insCCCCCCCCCCC
NM_001754.5(RUNX1):c.1277_1278insCCCCCCCCCCC (p.Arg427fs)
NC_000021.9:g.34792302_34792303insGGGGGGGGGGG
CM000683.2:g.34792302_34792303insGGGGGGGGGGG
NC_000021.8:g.36164599_36164600insGGGGGGGGGGG
CM000683.1:g.36164599_36164600insGGGGGGGGGGG
NC_000021.7:g.35086469_35086470insGGGGGGGGGGG
NG_011402.2:g.1197411_1197412insCCCCCCCCCCC
ENST00000675419.1:c.1277_1278insCCCCCCCCCCC
ENST00000300305.7:c.1277_1278insCCCCCCCCCCC
ENST00000344691.8:c.1196_1197insCCCCCCCCCCC
ENST00000399240.5:c.1004_1005insCCCCCCCCCCC
ENST00000437180.5:c.1277_1278insCCCCCCCCCCC
ENST00000482318.5:c.*867_*868insCCCCCCCCCCC
NM_001001890.2:c.1196_1197insCCCCCCCCCCC
NM_001754.4:c.1277_1278insCCCCCCCCCCC
NM_001001890.3:c.1196_1197insCCCCCCCCCCC
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Evidence submitted by expert panel
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