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.1334C>T (p.Ala445Val)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA1244040
631578 (ClinVar)
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: c08c169f-8ad9-4b17-a830-e50b12425e7d
Approved on: 2022-03-07
Published on: 2022-07-11
HGVS expressions
NM_000261.2:c.1334C>T
NM_000261.2(MYOC):c.1334C>T (p.Ala445Val)
NC_000001.11:g.171636106G>A
CM000663.2:g.171636106G>A
NC_000001.10:g.171605246G>A
CM000663.1:g.171605246G>A
NC_000001.9:g.169871869G>A
NG_008859.1:g.21528C>T
ENST00000037502.11:c.1334C>T
ENST00000637303.1:c.235-2524G>A
ENST00000638471.1:c.*672C>T
ENST00000037502.10:c.1334C>T
ENST00000614688.1:c.*298C>T
NM_000261.1:c.1334C>T
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Evidence submitted by expert panel
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