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.1133_1149del (p.Ala378fs)
CA658655962
447381 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 7bc5303a-12cb-452b-bf1d-39f3bc4b2c4f
Approved on: 2024-01-22
Published on: 2024-01-22
HGVS expressions
NM_000162.5:c.1133_1149del
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs)
NC_000007.14:g.44145603_44145619del
CM000669.2:g.44145603_44145619del
NC_000007.13:g.44185202_44185218del
CM000669.1:g.44185202_44185218del
NC_000007.12:g.44151727_44151743del
NG_008847.1:g.48807_48823del
NG_008847.2:g.57554_57570del
ENST00000395796.8:c.*1131_*1147del
ENST00000616242.5:c.*253_*269del
ENST00000683378.1:n.359_375del
ENST00000336642.9:c.167_183del
ENST00000345378.7:c.1136_1152del
ENST00000403799.8:c.1133_1149del
ENST00000671824.1:c.1196_1212del
ENST00000672743.1:n.145_161del
ENST00000673284.1:c.1133_1149del
ENST00000336642.8:c.185_201del
ENST00000345378.6:c.1136_1152del
ENST00000395796.7:c.1130_1146del
ENST00000403799.7:c.1133_1149del
ENST00000437084.1:c.1082_1098del
ENST00000459642.1:n.513_529del
ENST00000616242.4:c.1130_1146del
NM_000162.3:c.1133_1149del
NM_033507.1:c.1136_1152del
NM_033508.1:c.1130_1146del
NM_000162.4:c.1133_1149del
NM_001354800.1:c.1133_1149del
NM_001354801.1:c.122_138del
NM_001354802.1:c.-8_9del
NM_001354803.1:c.167_183del
NM_033507.2:c.1136_1152del
NM_033508.2:c.1130_1146del
NM_033507.3:c.1136_1152del
NM_033508.3:c.1130_1146del
NM_001354803.2:c.167_183del
Evidence submitted by expert panel
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