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
- ClinVar Id was derived from the Allele Registry.
Variant: NM_000261.2:c.624C>G
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA1244210
876020 (ClinVar)
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 7a5f7517-f4d3-4df2-b595-38ea5f9092dd
Approved on: 2022-02-21
Published on: 2022-07-11
HGVS expressions
NM_000261.2:c.624C>G
NC_000001.11:g.171638703G>C
CM000663.2:g.171638703G>C
NC_000001.10:g.171607843G>C
CM000663.1:g.171607843G>C
NC_000001.9:g.169874466G>C
NG_008859.1:g.18931C>G
ENST00000037502.11:c.624C>G
ENST00000637303.1:c.308G>C
ENST00000638471.1:c.154C>G
ENST00000037502.10:c.624C>G
ENST00000614688.1:c.624C>G
NM_000261.1:c.624C>G
NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)
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Evidence submitted by expert panel
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