| Variant ID | 13630 |
|---|---|
| Entrez Gene ID | 1539 |
| Gene | CYLC2 (GeneCards) |
| Location | hg19 9:105834781-105834781
hg38 9:103072499-103072499 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.105834781 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3999 |
| CADD Raw score (version 1.3) | -0.14394 (Deleterious) |
| FATHMM raw prediction score | 0.04262 (Tolerated) |
| Deleterious probability by DeFine | 0.4354 (Neutral) |
| Entrez Gene ID | 1539 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYLC2 (GeneCards) |
| Number of variants in CYLC2 in this database | 6 (view all the variants) |
| Full name | cylicin 2 |
| Band | 9q31.1 |
| Other IDs | Vega: OTTHUMG00000020396 OMIM: 604035 HGNC: HGNC:2583 Ensembl: ENSG00000155833 |
| Other names | None |
| Summary | Cylicin II (CYCL2) is specifically expressed in testis and is part of the cytoskeletal calyx of mammalian sperm heads. Cylicin II may play a role in the morphogenesis of the sperm head. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |