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_000162.5(GCK):c.579+4del
CA2573051051
2431839 (ClinVar)
Gene: GCK
Condition: monogenic diabetes
Inheritance Mode: Semidominant inheritance
UUID: a82dfcfb-8b49-4ab7-b1ed-ab9a54e4e373
Approved on: 2024-04-19
Published on: 2024-04-19
HGVS expressions
NM_000162.5:c.579+4del
NM_000162.5(GCK):c.579+4del
NC_000007.14:g.44149965del
CM000669.2:g.44149965del
NC_000007.13:g.44189564del
CM000669.1:g.44189564del
NC_000007.12:g.44156089del
NG_008847.1:g.44459del
NG_008847.2:g.53206del
ENST00000395796.8:c.*577+4del
ENST00000616242.5:c.579+4del
ENST00000682635.1:n.1065+4del
ENST00000345378.7:c.582+4del
ENST00000403799.8:c.579+4del
ENST00000671824.1:c.579+4del
ENST00000673284.1:c.579+4del
ENST00000345378.6:c.582+4del
ENST00000395796.7:c.576+4del
ENST00000403799.7:c.579+4del
ENST00000437084.1:c.528+4del
ENST00000616242.4:c.576+4del
NM_000162.3:c.579+4del
NM_033507.1:c.582+4del
NM_033508.1:c.576+4del
NM_000162.4:c.579+4del
NM_001354800.1:c.579+4del
NM_033507.2:c.582+4del
NM_033508.2:c.576+4del
NM_033507.3:c.582+4del
NM_033508.3:c.576+4del
Evidence submitted by expert panel
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