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.1451G>T (p.Gly484Val)
CA902151
813222 (ClinVar)
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 28d19f3d-84d3-41a4-961e-ce9e607a350c
Approved on: 2024-04-22
Published on: 2024-04-22
HGVS expressions
NM_000329.3:c.1451G>T
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NC_000001.11:g.68429927C>A
CM000663.2:g.68429927C>A
NC_000001.10:g.68895610C>A
CM000663.1:g.68895610C>A
NC_000001.9:g.68668198C>A
NG_008472.1:g.25033G>T
NG_008472.2:g.25033G>T
ENST00000262340.6:c.1451G>T
ENST00000262340.5:c.1451G>T
NM_000329.2:c.1451G>T
Evidence submitted by expert panel
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