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.764T>C
CA343726232
Gene: MYOC
Condition: juvenile open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 47a37550-303f-4d16-b741-cf6be4a960aa
Approved on: 2023-02-15
Published on: 2023-02-15
HGVS expressions
NM_000261.2:c.764T>C
NC_000001.11:g.171636676A>G
CM000663.2:g.171636676A>G
NC_000001.10:g.171605816A>G
CM000663.1:g.171605816A>G
NC_000001.9:g.169872439A>G
NG_008859.1:g.20958T>C
ENST00000037502.11:c.764T>C
ENST00000637303.1:c.235-1954A>G
ENST00000638471.1:c.*102T>C
ENST00000037502.10:c.764T>C
ENST00000614688.1:c.764T>C
NM_000261.1:c.764T>C
Evidence submitted by expert panel
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