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.544C>T (p.His182Tyr)
CA226559
98875 (ClinVar)
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 08f5d49e-8b51-4825-a7cf-652155a5682d
Approved on: 2024-04-22
Published on: 2024-04-22
HGVS expressions
NM_000329.3:c.544C>T
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)
NC_000001.11:g.68440952G>A
CM000663.2:g.68440952G>A
NC_000001.10:g.68906635G>A
CM000663.1:g.68906635G>A
NC_000001.9:g.68679223G>A
NG_008472.1:g.14008C>T
NG_008472.2:g.14008C>T
ENST00000262340.6:c.544C>T
ENST00000262340.5:c.544C>T
NM_000329.2:c.544C>T
Evidence submitted by expert panel
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