The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Variant: NM_001754.5(RUNX1):c.165dup (p.Leu56fs)
CA2387297219
1013619 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 75278995-1bc4-47dc-a356-e9f245681205
Approved on: 2024-03-26
Published on: 2024-03-26
HGVS expressions
NM_001754.5:c.165dup
NM_001754.5:c.164_165insG
NM_001754.5(RUNX1):c.165dup (p.Leu56fs)
NC_000021.9:g.34887029dup
CM000683.2:g.34887029dup
NC_000021.8:g.36259326dup
CM000683.1:g.36259326dup
NC_000021.7:g.35181196dup
NG_011402.2:g.1102683dup
ENST00000675419.1:c.165dup
ENST00000300305.7:c.165dup
ENST00000344691.8:c.84dup
ENST00000358356.9:c.84dup
ENST00000399237.6:c.129dup
ENST00000399240.5:c.84dup
ENST00000437180.5:c.165dup
ENST00000455571.5:c.126dup
ENST00000482318.5:c.59-6316dup
NM_001001890.2:c.84dup
NM_001122607.1:c.84dup
NM_001754.4:c.165dup
NM_001001890.3:c.84dup
NM_001122607.2:c.84dup
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.