The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Variant: NM_000162.5(GCK):c.1190G>A (p.Arg397His)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA367398533
995102 (ClinVar)
Gene: GCK
Condition: maturity-onset diabetes of the young type 2
Inheritance Mode: Autosomal dominant inheritance
UUID: 061baf7c-d594-4729-a388-afa5ae6964c4
Approved on: 2023-09-08
Published on: 2023-09-08
HGVS expressions
NM_000162.5:c.1190G>A
NM_000162.5(GCK):c.1190G>A (p.Arg397His)
NC_000007.14:g.44145560C>T
CM000669.2:g.44145560C>T
NC_000007.13:g.44185159C>T
CM000669.1:g.44185159C>T
NC_000007.12:g.44151684C>T
NG_008847.1:g.48864G>A
NG_008847.2:g.57611G>A
ENST00000395796.8:c.*1188G>A
ENST00000616242.5:c.*310G>A
ENST00000683378.1:n.416G>A
ENST00000336642.9:c.224G>A
ENST00000345378.7:c.1193G>A
ENST00000403799.8:c.1190G>A
ENST00000671824.1:c.1253G>A
ENST00000672743.1:n.202G>A
ENST00000673284.1:c.1190G>A
ENST00000336642.8:n.242G>A
ENST00000345378.6:c.1193G>A
ENST00000395796.7:c.1187G>A
ENST00000403799.7:c.1190G>A
ENST00000437084.1:c.1139G>A
ENST00000459642.1:n.570G>A
ENST00000616242.4:n.1187G>A
NM_000162.3:c.1190G>A
NM_033507.1:c.1193G>A
NM_033508.1:c.1187G>A
NM_000162.4:c.1190G>A
NM_001354800.1:c.1190G>A
NM_001354801.1:c.179G>A
NM_001354802.1:c.50G>A
NM_001354803.1:c.224G>A
NM_033507.2:c.1193G>A
NM_033508.2:c.1187G>A
NM_033507.3:c.1193G>A
NM_033508.3:c.1187G>A
NM_001354803.2:c.224G>A
More
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.