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.
CA1244333
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: de85baff-24da-4c94-996f-facafe915572
HGVS expressions
NM_000261.2:c.56_72dup
NC_000001.11:g.171652542_171652558dup
CM000663.2:g.171652542_171652558dup
NC_000001.10:g.171621682_171621698dup
CM000663.1:g.171621682_171621698dup
NC_000001.9:g.169888305_169888321dup
NG_008859.1:g.5078_5094dup
ENST00000037502.11:c.56_72dup
ENST00000638471.1:c.56_72dup
ENST00000037502.10:c.56_72dup
ENST00000614688.1:c.56_72dup
NM_000261.1:c.56_72dup
Evidence submitted by expert panel
Approved on: 2022-11-10
Published on: 2022-11-10
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