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 label mismatch: GCK vs undefined
- No ClinVar Id was directly found from the curated document
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_033508.3:c.861-7T>G
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA2850445536
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 3166029d-0b6c-479b-97fb-b9b9d3711fe4
Approved on: 2025-06-02
Published on: 2025-06-02
HGVS expressions
NM_033508.3:c.861-7T>G
NC_000007.14:g.44146625A>C
CM000669.2:g.44146625A>C
NC_000007.13:g.44186224A>C
CM000669.1:g.44186224A>C
NC_000007.12:g.44152749A>C
NG_008847.1:g.47799T>G
NG_008847.2:g.56546T>G
ENST00000395796.8:c.*862-7T>G
ENST00000616242.5:c.854-7T>G
ENST00000683378.1:n.83T>G
ENST00000345378.7:c.867-7T>G
ENST00000403799.8:c.864-7T>G
ENST00000671824.1:c.927-7T>G
ENST00000673284.1:c.864-7T>G
ENST00000345378.6:c.867-7T>G
ENST00000395796.7:c.861-7T>G
ENST00000403799.7:c.864-7T>G
ENST00000437084.1:c.813-7T>G
ENST00000473353.1:n.162-7T>G
ENST00000616242.4:c.861-7T>G
NM_000162.3:c.864-7T>G
NM_033507.1:c.867-7T>G
NM_033508.1:c.861-7T>G
NM_000162.4:c.864-7T>G
NM_001354800.1:c.864-7T>G
NM_001354801.1:c.2T>G
NM_033507.2:c.867-7T>G
NM_033508.2:c.861-7T>G
NM_000162.5:c.864-7T>G
NM_033507.3:c.867-7T>G
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Evidence submitted by expert panel
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