The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA340742486
850613 (ClinVar)
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 8da3ac20-f2f0-43e1-b08a-6d3d7773bda9
Approved on: 2024-04-22
Published on: 2024-04-22
HGVS expressions
NM_000329.3:c.1301C>A
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NC_000001.11:g.68431319G>T
CM000663.2:g.68431319G>T
NC_000001.10:g.68897002G>T
CM000663.1:g.68897002G>T
NC_000001.9:g.68669590G>T
NG_008472.1:g.23641C>A
NG_008472.2:g.23641C>A
ENST00000262340.6:c.1301C>A
ENST00000262340.5:c.1301C>A
NM_000329.2:c.1301C>A
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Evidence submitted by expert panel
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