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.1360del (p.Ala454fs)
CA915944915
804844 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: ac4dff08-1dfe-4dd5-a88a-bbc30a9f7fae
HGVS expressions
NM_000162.5:c.1360del
NM_000162.5(GCK):c.1360del (p.Ala454fs)
NC_000007.14:g.44145175del
CM000669.2:g.44145175del
NC_000007.13:g.44184774del
CM000669.1:g.44184774del
NC_000007.12:g.44151299del
NG_008847.1:g.49250del
NG_008847.2:g.57997del
ENST00000395796.8:c.*1358del
ENST00000616242.5:c.*480del
ENST00000683378.1:n.586del
ENST00000336642.9:c.394del
ENST00000345378.7:c.1363del
ENST00000403799.8:c.1360del
ENST00000671824.1:c.1423del
ENST00000672743.1:n.372del
ENST00000673284.1:c.1360del
ENST00000336642.8:n.412del
ENST00000345378.6:c.1363del
ENST00000395796.7:c.1357del
ENST00000403799.7:c.1360del
ENST00000437084.1:c.1309del
ENST00000459642.1:n.740del
ENST00000616242.4:n.1357del
NM_000162.3:c.1360del
NM_033507.1:c.1363del
NM_033508.1:c.1357del
NM_000162.4:c.1360del
NM_001354800.1:c.1360del
NM_001354801.1:c.349del
NM_001354802.1:c.220del
NM_001354803.1:c.394del
NM_033507.2:c.1363del
NM_033508.2:c.1357del
NM_033507.3:c.1363del
NM_033508.3:c.1357del
NM_001354803.2:c.394del
Evidence submitted by expert panel
Approved on: 2023-06-22
Published on: 2023-06-22
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