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
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_000329.3:c.1253T>A
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA340742683
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 9c6d7eb6-1401-4787-9ebb-3021d1be6a14
Approved on: 2024-04-22
Published on: 2024-04-22
HGVS expressions
NM_000329.3:c.1253T>A
NC_000001.11:g.68431367A>T
CM000663.2:g.68431367A>T
NC_000001.10:g.68897050A>T
CM000663.1:g.68897050A>T
NC_000001.9:g.68669638A>T
NG_008472.1:g.23593T>A
NG_008472.2:g.23593T>A
ENST00000262340.6:c.1253T>A
ENST00000262340.5:c.1253T>A
NM_000329.2:c.1253T>A
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Evidence submitted by expert panel
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