The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
Variant: NM_001354803.2:c.397dup
CA2573102980
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 579e8430-0352-48b7-ae69-a21548395c33
HGVS expressions
NM_001354803.2:c.397dup
NC_000007.14:g.44145172dup
CM000669.2:g.44145172dup
NC_000007.13:g.44184771dup
CM000669.1:g.44184771dup
NC_000007.12:g.44151296dup
NG_008847.1:g.49253dup
NG_008847.2:g.58000dup
ENST00000395796.8:c.*1361dup
ENST00000616242.5:c.*483dup
ENST00000683378.1:n.589dup
ENST00000336642.9:c.397dup
ENST00000345378.7:c.1366dup
ENST00000403799.8:c.1363dup
ENST00000671824.1:c.1426dup
ENST00000672743.1:n.375dup
ENST00000673284.1:c.1363dup
ENST00000336642.8:n.415dup
ENST00000345378.6:c.1366dup
ENST00000395796.7:c.1360dup
ENST00000403799.7:c.1363dup
ENST00000437084.1:c.1312dup
ENST00000459642.1:n.743dup
ENST00000616242.4:n.1360dup
NM_000162.3:c.1363dup
NM_033507.1:c.1366dup
NM_033508.1:c.1360dup
NM_000162.4:c.1363dup
NM_001354800.1:c.1363dup
NM_001354801.1:c.352dup
NM_001354802.1:c.223dup
NM_001354803.1:c.397dup
NM_033507.2:c.1366dup
NM_033508.2:c.1360dup
NM_000162.5:c.1363dup
NM_033507.3:c.1366dup
NM_033508.3:c.1360dup
Evidence submitted by expert panel
Approved on: 2023-09-01
Published on: 2023-09-01
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