Identity
HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
C19L1,SCAR17,hDrn1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55280
MIM: 616120
HGNC: 25613
Ensembl: ENSG00000095485
Variants:
dbSNP: 55280
ClinVar: 55280
TCGA: ENSG00000095485
COSMIC: CWF19L1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36453471 | 2023 | Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. | 0 |
| 37752213 | 2023 | Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17. | 0 |
| 36453471 | 2023 | Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. | 0 |
| 37752213 | 2023 | Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17. | 0 |
| 36357319 | 2022 | Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17. | 1 |
| 36357319 | 2022 | Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17. | 1 |
| 33012273 | 2021 | A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17. | 3 |
| 33012273 | 2021 | A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17. | 3 |
| 26197978 | 2016 | Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. | 9 |
| 27016154 | 2016 | Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. | 5 |
| 26197978 | 2016 | Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. | 9 |
| 27016154 | 2016 | Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. | 5 |
| 25671812 | 2015 | Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein. | 5 |
| 25671812 | 2015 | Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein. | 5 |
| 25361784 | 2014 | Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. | 17 |
Citation
Dessen P
CWF19L1 (CWF19 like cell cycle control factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62208/cwf19l1-(cwf19-like-cell-cycle-control-factor-1)
