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
Variant: NM_000261.2:c.731G>C
CA343726308
Gene: MYOC
Condition: juvenile open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 6d607c6b-c793-49d9-8f44-df259302bfaa
Approved on: 2023-07-05
Published on: 2023-07-05
HGVS expressions
NM_000261.2:c.731G>C
NC_000001.11:g.171636709C>G
CM000663.2:g.171636709C>G
NC_000001.10:g.171605849C>G
CM000663.1:g.171605849C>G
NC_000001.9:g.169872472C>G
NG_008859.1:g.20925G>C
ENST00000037502.11:c.731G>C
ENST00000637303.1:c.235-1921C>G
ENST00000638471.1:c.*69G>C
ENST00000037502.10:c.731G>C
ENST00000614688.1:c.731G>C
NM_000261.1:c.731G>C
Evidence submitted by expert panel
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