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.1067del (p.Asn356fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA226477
98821 (ClinVar)
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: daeb1902-db11-4ce0-a723-fc1f96265b49
Approved on: 2024-04-22
Published on: 2024-04-22
HGVS expressions
NM_000329.3:c.1067delA
NM_000329.3:c.1067del
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
NC_000001.11:g.68438255del
CM000663.2:g.68438255del
NC_000001.10:g.68903938del
CM000663.1:g.68903938del
NC_000001.9:g.68676526del
NG_008472.1:g.16712del
NG_008472.2:g.16712del
ENST00000262340.6:c.1067del
ENST00000262340.5:c.1067del
NM_000329.2:c.1067del
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Evidence submitted by expert panel
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