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 computed assertion could be determined for this classification!
Variant: NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA8365473
283615 (ClinVar)
Gene: GUCY2D
Condition: GUCY2D-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 823c36b3-bd9e-4671-994a-adefcdb0d77d
Approved on: 2025-01-30
Published on: 2025-01-30
HGVS expressions
NM_000180.4:c.129_134del
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
NC_000017.11:g.8003176_8003181del
CM000679.2:g.8003176_8003181del
NC_000017.10:g.7906494_7906499del
CM000679.1:g.7906494_7906499del
NC_000017.9:g.7847219_7847224del
NG_009092.1:g.5507_5512del
ENST00000254854.5:c.129_134del
ENST00000254854.4:c.129_134del
NM_000180.3:c.129_134del
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Evidence submitted by expert panel
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