The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_000261.2(MYOC):c.1196G>T (p.Gly399Val)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA119182
7957 (ClinVar)
Gene: MYOC
Condition: juvenile open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 7543f7e0-692c-4ce1-867a-c57c1f97d9a2
Approved on: 2022-12-14
Published on: 2022-12-14
HGVS expressions
NM_000261.2:c.1196G>T
NM_000261.2(MYOC):c.1196G>T (p.Gly399Val)
NC_000001.11:g.171636244C>A
CM000663.2:g.171636244C>A
NC_000001.10:g.171605384C>A
CM000663.1:g.171605384C>A
NC_000001.9:g.169872007C>A
NG_008859.1:g.21390G>T
ENST00000037502.11:c.1196G>T
ENST00000637303.1:c.235-2386C>A
ENST00000638471.1:c.*534G>T
ENST00000037502.10:c.1196G>T
ENST00000614688.1:c.*160G>T
NM_000261.1:c.1196G>T
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Evidence submitted by expert panel
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