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.122C>T (p.Thr41Met)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA10014590
661459 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: 546a3ea3-a27c-46e7-a9a2-463a702bc1bc
Approved on: 2024-08-01
Published on: 2024-08-01
HGVS expressions
NM_001754.5:c.122C>T
NM_001754.5(RUNX1):c.122C>T (p.Thr41Met)
NC_000021.9:g.34887072G>A
CM000683.2:g.34887072G>A
NC_000021.8:g.36259369G>A
CM000683.1:g.36259369G>A
NC_000021.7:g.35181239G>A
NG_011402.2:g.1102640C>T
ENST00000675419.1:c.122C>T
ENST00000300305.7:c.122C>T
ENST00000344691.8:c.41C>T
ENST00000358356.9:c.41C>T
ENST00000399237.6:c.86C>T
ENST00000399240.5:c.41C>T
ENST00000437180.5:c.122C>T
ENST00000455571.5:c.83C>T
ENST00000475045.6:c.122C>T
ENST00000482318.5:c.59-6359C>T
NM_001001890.2:c.41C>T
NM_001122607.1:c.41C>T
NM_001754.4:c.122C>T
NM_001001890.3:c.41C>T
NM_001122607.2:c.41C>T
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Evidence submitted by expert panel
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