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.
CA1244262
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 78ac7986-ec93-4219-b5ad-3b2f43fde867
Approved on: 2022-08-28
Published on: 2022-08-28
HGVS expressions
NM_000261.2:c.526del
NC_000001.11:g.171652087del
CM000663.2:g.171652087del
NC_000001.10:g.171621227del
CM000663.1:g.171621227del
NC_000001.9:g.169887850del
NG_008859.1:g.5548del
ENST00000037502.11:c.526del
ENST00000638471.1:c.130+396del
ENST00000037502.10:c.526del
ENST00000614688.1:c.526del
NM_000261.1:c.526del
Evidence submitted by expert panel
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