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.1332del (p.Ser445fs)
CA213755
36197 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 1a6bc000-0c98-4f9c-bff7-53f1a4011d76
Approved on: 2023-06-20
Published on: 2023-06-20
HGVS expressions
NM_000162.5:c.1332del
NM_000162.5(GCK):c.1332del (p.Ser445fs)
NC_000007.14:g.44145202del
CM000669.2:g.44145202del
NC_000007.13:g.44184801del
CM000669.1:g.44184801del
NC_000007.12:g.44151326del
NG_008847.1:g.49222del
NG_008847.2:g.57969del
ENST00000395796.8:c.*1330del
ENST00000616242.5:c.*452del
ENST00000683378.1:n.558del
ENST00000336642.9:c.366del
ENST00000345378.7:c.1335del
ENST00000403799.8:c.1332del
ENST00000671824.1:c.1395del
ENST00000672743.1:n.344del
ENST00000673284.1:c.1332del
ENST00000336642.8:n.384del
ENST00000345378.6:c.1335del
ENST00000395796.7:c.1329del
ENST00000403799.7:c.1332del
ENST00000437084.1:c.1281del
ENST00000459642.1:n.712del
ENST00000616242.4:n.1329del
NM_000162.3:c.1332del
NM_033507.1:c.1335del
NM_033508.1:c.1329del
NM_000162.4:c.1332del
NM_001354800.1:c.1332del
NM_001354801.1:c.321del
NM_001354802.1:c.192del
NM_001354803.1:c.366del
NM_033507.2:c.1335del
NM_033508.2:c.1329del
NM_033507.3:c.1335del
NM_033508.3:c.1329del
NM_001354803.2:c.366del
Evidence submitted by expert panel
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