The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000162.5(GCK):c.1339del (p.Arg447fs)
- Curation Version - 1.2
- Curation History
- JSON LD for Version 1.2
CA16618465
421604 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 57099451-f505-43a6-a591-6aff6abf1335
Approved on: 2023-09-01
Published on: 2023-09-01
HGVS expressions
NM_000162.5:c.1339del
NM_000162.5(GCK):c.1339del (p.Arg447fs)
NC_000007.14:g.44145196del
CM000669.2:g.44145196del
NC_000007.13:g.44184795del
CM000669.1:g.44184795del
NC_000007.12:g.44151320del
NG_008847.1:g.49229del
NG_008847.2:g.57976del
ENST00000395796.8:c.*1337del
ENST00000616242.5:c.*459del
ENST00000683378.1:n.565del
ENST00000336642.9:c.373del
ENST00000345378.7:c.1342del
ENST00000403799.8:c.1339del
ENST00000671824.1:c.1402del
ENST00000672743.1:n.351del
ENST00000673284.1:c.1339del
ENST00000336642.8:n.391del
ENST00000345378.6:c.1342del
ENST00000395796.7:c.1336del
ENST00000403799.7:c.1339del
ENST00000437084.1:c.1288del
ENST00000459642.1:n.719del
ENST00000616242.4:n.1336del
NM_000162.3:c.1339del
NM_033507.1:c.1342del
NM_033508.1:c.1336del
NM_000162.4:c.1339del
NM_001354800.1:c.1339del
NM_001354801.1:c.328del
NM_001354802.1:c.199del
NM_001354803.1:c.373del
NM_033507.2:c.1342del
NM_033508.2:c.1336del
NM_033507.3:c.1342del
NM_033508.3:c.1336del
NM_001354803.2:c.373del
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Evidence submitted by expert panel
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