The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_001354803.2:c.203_205del
CA2580612099
1303094 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: 5a7465b5-f319-4221-8be9-f313a38d3339
HGVS expressions
NM_001354803.2:c.203_205del
NC_000007.14:g.44145582_44145584del
CM000669.2:g.44145582_44145584del
NC_000007.13:g.44185181_44185183del
CM000669.1:g.44185181_44185183del
NC_000007.12:g.44151706_44151708del
NG_008847.1:g.48843_48845del
NG_008847.2:g.57590_57592del
ENST00000395796.8:c.*1167_*1169del
ENST00000616242.5:c.*289_*291del
ENST00000683378.1:n.395_397del
ENST00000336642.9:c.203_205del
ENST00000345378.7:c.1172_1174del
ENST00000403799.8:c.1169_1171del
ENST00000671824.1:c.1232_1234del
ENST00000672743.1:n.181_183del
ENST00000673284.1:c.1169_1171del
ENST00000336642.8:c.221_223del
ENST00000345378.6:c.1172_1174del
ENST00000395796.7:c.1166_1168del
ENST00000403799.7:c.1169_1171del
ENST00000437084.1:c.1118_1120del
ENST00000459642.1:n.549_551del
ENST00000616242.4:c.1166_1168del
NM_000162.3:c.1169_1171del
NM_033507.1:c.1172_1174del
NM_033508.1:c.1166_1168del
NM_000162.4:c.1169_1171del
NM_001354800.1:c.1169_1171del
NM_001354801.1:c.158_160del
NM_001354802.1:c.29_31del
NM_001354803.1:c.203_205del
NM_033507.2:c.1172_1174del
NM_033508.2:c.1166_1168del
NM_000162.5:c.1169_1171del
NM_033507.3:c.1172_1174del
NM_033508.3:c.1166_1168del
Evidence submitted by expert panel
Approved on: 2024-04-28
Published on: 2024-04-28
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