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.299_307delinsTGCGAGCCACCTTCAT
CA1139771342
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 468bd8d0-6a0c-4f35-97ff-54fa4f64ca67
HGVS expressions
NM_001354803.2:c.299_307delinsTGCGAGCCACCTTCAT
NC_000007.14:g.44145261_44145269delinsATGAAGGTGGCTCGCA
CM000669.2:g.44145261_44145269delinsATGAAGGTGGCTCGCA
NC_000007.13:g.44184860_44184868delinsATGAAGGTGGCTCGCA
CM000669.1:g.44184860_44184868delinsATGAAGGTGGCTCGCA
NC_000007.12:g.44151385_44151393delinsATGAAGGTGGCTCGCA
NG_008847.1:g.49155_49163delinsTGCGAGCCACCTTCAT
NG_008847.2:g.57902_57910delinsTGCGAGCCACCTTCAT
ENST00000395796.8:c.*1263_*1271delinsTGCGAGCCACCTTCAT
ENST00000616242.5:c.*385_*393delinsTGCGAGCCACCTTCAT
ENST00000683378.1:n.491_499delinsTGCGAGCCACCTTCAT
ENST00000336642.9:c.299_307delinsTGCGAGCCACCTTCAT
ENST00000345378.7:c.1268_1276delinsTGCGAGCCACCTTCAT
ENST00000403799.8:c.1265_1273delinsTGCGAGCCACCTTCAT
ENST00000671824.1:c.1328_1336delinsTGCGAGCCACCTTCAT
ENST00000672743.1:n.277_285delinsTGCGAGCCACCTTCAT
ENST00000673284.1:c.1265_1273delinsTGCGAGCCACCTTCAT
ENST00000336642.8:n.317_325delinsTGCGAGCCACCTTCAT
ENST00000345378.6:c.1268_1276delinsTGCGAGCCACCTTCAT
ENST00000395796.7:c.1262_1270delinsTGCGAGCCACCTTCAT
ENST00000403799.7:c.1265_1273delinsTGCGAGCCACCTTCAT
ENST00000437084.1:c.1214_1222delinsTGCGAGCCACCTTCAT
ENST00000459642.1:n.645_653delinsTGCGAGCCACCTTCAT
ENST00000616242.4:n.1262_1270delinsTGCGAGCCACCTTCAT
NM_000162.3:c.1265_1273delinsTGCGAGCCACCTTCAT
NM_033507.1:c.1268_1276delinsTGCGAGCCACCTTCAT
NM_033508.1:c.1262_1270delinsTGCGAGCCACCTTCAT
NM_000162.4:c.1265_1273delinsTGCGAGCCACCTTCAT
NM_001354800.1:c.1265_1273delinsTGCGAGCCACCTTCAT
NM_001354801.1:c.254_262delinsTGCGAGCCACCTTCAT
NM_001354802.1:c.125_133delinsTGCGAGCCACCTTCAT
NM_001354803.1:c.299_307delinsTGCGAGCCACCTTCAT
NM_033507.2:c.1268_1276delinsTGCGAGCCACCTTCAT
NM_033508.2:c.1262_1270delinsTGCGAGCCACCTTCAT
NM_000162.5:c.1265_1273delinsTGCGAGCCACCTTCAT
NM_033507.3:c.1268_1276delinsTGCGAGCCACCTTCAT
NM_033508.3:c.1262_1270delinsTGCGAGCCACCTTCAT
Evidence submitted by expert panel
Approved on: 2023-06-20
Published on: 2023-06-20
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