CWF19L1 Chromosome 10
CWF19 like cell cycle control factor 1
Upload your DNA to see your personal genotypes for variants in CWF19L1.
What This Gene Does
This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Small nucleolar RNA protein coding host genes
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000095485
Associated Conditions (4)
Inborn genetic diseases
Autosomal recessive spinocerebellar ataxia 17
CWF19L1-related disorder
Intellectual disability
Key Variants
RS1389916079
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772697259
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
RS1236392229
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
RS1330992740
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
RS1346497238
Likely pathogenic
CWF19L1-related disorder, CWF19L1-related disorder
Health Risk
RS1424478086
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
RS1554902760
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
RS1846799593
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1846978970
Likely pathogenic
Health Risk
RS201230582
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
RS2134272638
Likely pathogenic
Health Risk
RS749679347
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1389916079 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772697259 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1236392229 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1330992740 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1346497238 | Health Risk | Likely pathogenic | CWF19L1-related disorder, CWF19L1-related disorder |
| RS1424478086 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1554902760 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1846799593 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1846978970 | Health Risk | Likely pathogenic | — |
| RS201230582 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS2134272638 | Health Risk | Likely pathogenic | — |
| RS749679347 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS761174120 | Health Risk | Likely pathogenic | — |
| RS769036891 | Health Risk | Likely pathogenic | — |
| RS772446354 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1057520757 | Health Risk | Pathogenic | — |
| RS1431707463 | Health Risk | Pathogenic | — |
| RS150239404 | Health Risk | Pathogenic | — |
| RS1554904186 | Health Risk | Pathogenic | — |
| RS1589625941 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1846512047 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1846514750 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS2134307362 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS2493141408 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS587780326 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS879255653 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS1589611043 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |
| RS879255654 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17 |