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.844del
CA1244142
1698736 (ClinVar)
Gene: MYOC
Condition: primary open angle glaucoma
Inheritance Mode: Autosomal dominant inheritance
UUID: 39dd669b-0f4e-42ac-832c-98d7b5ad3ebb
HGVS expressions
NM_000261.2:c.844del
NC_000001.11:g.171636598del
CM000663.2:g.171636598del
NC_000001.10:g.171605738del
CM000663.1:g.171605738del
NC_000001.9:g.169872361del
NG_008859.1:g.21038del
ENST00000037502.11:c.844del
ENST00000637303.1:c.235-2032del
ENST00000638471.1:c.*182del
ENST00000037502.10:c.844del
ENST00000614688.1:c.844del
NM_000261.1:c.844del
NM_000261.2(MYOC):c.844del (p.Gln282fs)
Evidence submitted by expert panel
Approved on: 2023-07-05
Published on: 2023-07-05
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