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.1130_1138del (p.Arg377_Ala379del)
CA645369436
429640 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 4ed4eb55-54cb-4124-b293-d942e356bd7e
Approved on: 2024-02-02
Published on: 2024-02-02
HGVS expressions
NM_000162.5:c.1130_1138del
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)
NC_000007.14:g.44145615_44145623del
CM000669.2:g.44145615_44145623del
NC_000007.13:g.44185214_44185222del
CM000669.1:g.44185214_44185222del
NC_000007.12:g.44151739_44151747del
NG_008847.1:g.48804_48812del
NG_008847.2:g.57551_57559del
ENST00000395796.8:c.*1128_*1136del
ENST00000616242.5:c.*250_*258del
ENST00000683378.1:n.356_364del
ENST00000336642.9:c.164_172del
ENST00000345378.7:c.1133_1141del
ENST00000403799.8:c.1130_1138del
ENST00000671824.1:c.1193_1201del
ENST00000672743.1:n.142_150del
ENST00000673284.1:c.1130_1138del
ENST00000336642.8:c.182_190del
ENST00000345378.6:c.1133_1141del
ENST00000395796.7:c.1127_1135del
ENST00000403799.7:c.1130_1138del
ENST00000437084.1:c.1079_1087del
ENST00000459642.1:n.510_518del
ENST00000616242.4:c.1127_1135del
NM_000162.3:c.1130_1138del
NM_033507.1:c.1133_1141del
NM_033508.1:c.1127_1135del
NM_000162.4:c.1130_1138del
NM_001354800.1:c.1130_1138del
NM_001354801.1:c.119_127del
NM_001354802.1:c.-11_-3del
NM_001354803.1:c.164_172del
NM_033507.2:c.1133_1141del
NM_033508.2:c.1127_1135del
NM_033507.3:c.1133_1141del
NM_033508.3:c.1127_1135del
NM_001354803.2:c.164_172del
Evidence submitted by expert panel
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