The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- No ClinVar Id was directly found from the curated document
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_001354803.2:c.166_167del
CA2580612101
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: e48e2a42-8d22-41bb-94c0-c92f02b352c6
HGVS expressions
NM_001354803.2:c.166_167del
NC_000007.14:g.44145622_44145623del
CM000669.2:g.44145622_44145623del
NC_000007.13:g.44185221_44185222del
CM000669.1:g.44185221_44185222del
NC_000007.12:g.44151746_44151747del
NG_008847.1:g.48806_48807del
NG_008847.2:g.57553_57554del
ENST00000395796.8:c.*1130_*1131del
ENST00000616242.5:c.*252_*253del
ENST00000683378.1:n.358_359del
ENST00000336642.9:c.166_167del
ENST00000345378.7:c.1135_1136del
ENST00000403799.8:c.1132_1133del
ENST00000671824.1:c.1195_1196del
ENST00000672743.1:n.144_145del
ENST00000673284.1:c.1132_1133del
ENST00000336642.8:c.184_185del
ENST00000345378.6:c.1135_1136del
ENST00000395796.7:c.1129_1130del
ENST00000403799.7:c.1132_1133del
ENST00000437084.1:c.1081_1082del
ENST00000459642.1:n.512_513del
ENST00000616242.4:c.1129_1130del
NM_000162.3:c.1132_1133del
NM_033507.1:c.1135_1136del
NM_033508.1:c.1129_1130del
NM_000162.4:c.1132_1133del
NM_001354800.1:c.1132_1133del
NM_001354801.1:c.121_122del
NM_001354802.1:c.-9_-8del
NM_001354803.1:c.166_167del
NM_033507.2:c.1135_1136del
NM_033508.2:c.1129_1130del
NM_000162.5:c.1132_1133del
NM_033507.3:c.1135_1136del
NM_033508.3:c.1129_1130del
Evidence submitted by expert panel
Approved on: 2024-04-28
Published on: 2024-04-28
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