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.754G>A (p.Gly252Arg)
CA119185
7960 (ClinVar)
Gene: MYOC
Condition: juvenile open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 7c18a1c8-3f43-4cda-8474-89b064e9aeb7
Approved on: 2022-02-21
Published on: 2022-07-11
HGVS expressions
NM_000261.2:c.754G>A
NM_000261.2(MYOC):c.754G>A (p.Gly252Arg)
NC_000001.11:g.171636686C>T
CM000663.2:g.171636686C>T
NC_000001.10:g.171605826C>T
CM000663.1:g.171605826C>T
NC_000001.9:g.169872449C>T
NG_008859.1:g.20948G>A
ENST00000037502.11:c.754G>A
ENST00000637303.1:c.235-1944C>T
ENST00000638471.1:c.*92G>A
ENST00000037502.10:c.754G>A
ENST00000614688.1:c.754G>A
NM_000261.1:c.754G>A
Evidence submitted by expert panel
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