The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- See Evidence submitted by expert panel for details.
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA296098
180895 (ClinVar)
Gene: MAP2K1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: daa41704-c6b0-4d20-8b22-57a3fc0ab2f1
Approved on: 2019-09-24
Published on: 2019-10-02
HGVS expressions
NM_002755.3:c.1068+9A>G
NM_006049.3:c.*967T>C
NR_138061.1:n.1486T>C
ENST00000307102.9:c.1068+9A>G
ENST00000566326.1:c.540+9A>G
NC_000015.10:g.66489772A>G
CM000677.2:g.66489772A>G
NC_000015.9:g.66782110A>G
CM000677.1:g.66782110A>G
NC_000015.8:g.64569164A>G
NG_008305.1:g.107900A>G
NG_051234.1:g.13044T>C
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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.