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_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA340742354
427864 (ClinVar)
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 79b802a8-f024-4536-a8a2-3e73fddaa67c
Approved on: 2024-02-20
Published on: 2024-02-20
HGVS expressions
NM_000329.3:c.1338G>T
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
NC_000001.11:g.68431282C>A
CM000663.2:g.68431282C>A
NC_000001.10:g.68896965C>A
CM000663.1:g.68896965C>A
NC_000001.9:g.68669553C>A
NG_008472.1:g.23678G>T
NG_008472.2:g.23678G>T
ENST00000262340.6:c.1338G>T
ENST00000262340.5:c.1338G>T
NM_000329.2:c.1338G>T
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Evidence submitted by expert panel
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