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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- No ClinVar Id was directly found from the curated document
Variant: NM_001354803.2:c.392_*127delinsT
CA2496602227
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 8c77ed6d-252c-4d0d-b3e5-98331731629a
Approved on: 2023-06-20
Published on: 2023-06-20
HGVS expressions
NM_001354803.2:c.392_*127delinsT
NC_000007.14:g.44145009_44145176delinsA
CM000669.2:g.44145009_44145176delinsA
NC_000007.13:g.44184608_44184775delinsA
CM000669.1:g.44184608_44184775delinsA
NC_000007.12:g.44151133_44151300delinsA
NG_008847.1:g.49248_49415delinsT
NG_008847.2:g.57995_58162delinsT
ENST00000395796.8:c.*1356_*1523delinsT
ENST00000616242.5:c.*478_*645delinsT
ENST00000683378.1:n.584_751delinsT
ENST00000336642.9:c.392_*127delinsT
ENST00000345378.7:c.1361_*127delinsT
ENST00000403799.8:c.1358_*127delinsT
ENST00000671824.1:c.1421_*127delinsT
ENST00000672743.1:n.370_381+156delinsT
ENST00000673284.1:c.1358_1369+156delinsT
ENST00000336642.8:n.410_577delinsT
ENST00000345378.6:c.1361_*127delinsT
ENST00000395796.7:c.1355_*127delinsT
ENST00000403799.7:c.1358_*127delinsT
ENST00000459642.1:n.738_905delinsT
ENST00000616242.4:n.1355_1522delinsT
NM_000162.3:c.1358_*127delinsT
NM_033507.1:c.1361_*127delinsT
NM_033508.1:c.1355_*127delinsT
NM_000162.4:c.1358_*127delinsT
NM_001354800.1:c.1358_1369+156delinsT
NM_001354801.1:c.347_*127delinsT
NM_001354802.1:c.218_229+156delinsT
NM_001354803.1:c.392_*127delinsT
NM_033507.2:c.1361_*127delinsT
NM_033508.2:c.1355_*127delinsT
NM_000162.5:c.1358_*127delinsT
NM_033507.3:c.1361_*127delinsT
NM_033508.3:c.1355_*127delinsT
Evidence submitted by expert panel
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