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
- 'cspec' property is found but contains no ID!
- See Evidence submitted by expert panel for details.
Variant: NM_000261.2:c.1466G>A
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA343723002
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: b62c4d7e-6b73-422d-bb96-c7b663bf85e2
Approved on: 2023-06-01
Published on: 2023-06-01
HGVS expressions
NM_000261.2:c.1466G>A
NC_000001.11:g.171635974C>T
CM000663.2:g.171635974C>T
NC_000001.10:g.171605114C>T
CM000663.1:g.171605114C>T
NC_000001.9:g.169871737C>T
NG_008859.1:g.21660G>A
ENST00000037502.11:c.1466G>A
ENST00000637303.1:c.235-2656C>T
ENST00000638471.1:c.*804G>A
ENST00000037502.10:c.1466G>A
ENST00000614688.1:c.*430G>A
NM_000261.1:c.1466G>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.