CWC27 Chromosome 5
CWC27 spliceosome associated cyclophilin
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What This Gene Does
Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Cyclophilin peptidylprolyl isomerases|NTC associated proteins|Spliceosomal Bact complex|Spliceosomal C complex|Spliceosomal P complex"
Locus Type
gene with protein product
Location
5q12.3
Ensembl
ENSG00000153015
Associated Conditions (5)
Inborn genetic diseases
Retinal dystrophy
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Familial pancreatic carcinoma
Retinitis pigmentosa
Key Variants
RS1318855120
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201232840
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1468432566
Likely pathogenic
Health Risk
RS1743147822
Likely pathogenic
Health Risk
RS182274413
Likely pathogenic
Health Risk
RS2112169750
Likely pathogenic
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Health Risk
RS2531272296
Likely pathogenic
Health Risk
RS2531530527
Likely pathogenic
Health Risk
RS747658761
Likely pathogenic
Health Risk
RS767210188
Likely pathogenic
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Familial pancreatic carcinoma, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Health Risk
RS1085307446
Pathogenic
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Retinitis pigmentosa, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Health Risk
RS1085307447
Pathogenic
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1318855120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201232840 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1468432566 | Health Risk | Likely pathogenic | — |
| RS1743147822 | Health Risk | Likely pathogenic | — |
| RS182274413 | Health Risk | Likely pathogenic | — |
| RS2112169750 | Health Risk | Likely pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS2531272296 | Health Risk | Likely pathogenic | — |
| RS2531530527 | Health Risk | Likely pathogenic | — |
| RS747658761 | Health Risk | Likely pathogenic | — |
| RS767210188 | Health Risk | Likely pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Familial pancreatic carcinoma, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS1085307446 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Retinitis pigmentosa, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS1085307447 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS1186944777 | Health Risk | Pathogenic | — |
| RS1259976736 | Health Risk | Pathogenic | — |
| RS1300583921 | Health Risk | Pathogenic | — |
| RS1372091680 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1409955425 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS1743380522 | Health Risk | Pathogenic | — |
| RS1743983240 | Health Risk | Pathogenic | — |
| RS1744583469 | Health Risk | Pathogenic | — |
| RS2112128704 | Health Risk | Pathogenic | — |
| RS2112161191 | Health Risk | Pathogenic | — |
| RS2112214898 | Health Risk | Pathogenic | — |
| RS2112343388 | Health Risk | Pathogenic | — |
| RS2112442370 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS2531243592 | Health Risk | Pathogenic | — |
| RS2531297194 | Health Risk | Pathogenic | — |
| RS752016886 | Health Risk | Pathogenic | — |
| RS752159903 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Retinal dystrophy, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS773382223 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS777801764 | Health Risk | Pathogenic | — |
| RS781702398 | Health Risk | Pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
| RS922927440 | Health Risk | Pathogenic | — |
| RS927473472 | Health Risk | Pathogenic | — |
| RS2112207891 | Health Risk | Pathogenic/Likely pathogenic | Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome, Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |