C1QTNF5 Chromosome 11
C1q and TNF related 5
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What This Gene Does
This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
C1q and TNF related
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000223953
Associated Conditions (3)
Retinal dystrophy
C1QTNF5-related disorder
Late-onset retinal degeneration
Key Variants
RS143241967
Conflicting classifications of pathogenicity
Health Risk
RS1950474024
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS751346951
Conflicting classifications of pathogenicity
C1QTNF5-related disorder, C1QTNF5-related disorder
Health Risk
RS760578346
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS883246
Conflicting classifications of pathogenicity
Health Risk
RS1555036138
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS906525288
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS111033578
Pathogenic/Likely pathogenic
Late-onset retinal degeneration, Retinal dystrophy, Retinal dystrophy
Health Risk
RS1591299252
Pathogenic/Likely pathogenic
Late-onset retinal degeneration, Late-onset retinal degeneration, Retinal dystrophy
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143241967 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1950474024 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS751346951 | Health Risk | Conflicting classifications of pathogenicity | C1QTNF5-related disorder, C1QTNF5-related disorder |
| RS760578346 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS883246 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555036138 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS906525288 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS111033578 | Health Risk | Pathogenic/Likely pathogenic | Late-onset retinal degeneration, Retinal dystrophy, Retinal dystrophy |
| RS1591299252 | Health Risk | Pathogenic/Likely pathogenic | Late-onset retinal degeneration, Late-onset retinal degeneration, Retinal dystrophy |