| Variant ID | 22004 |
|---|---|
| Entrez Gene ID | 1538 |
| Gene | CYLC1 (GeneCards) |
| Location | hg19 X:83256785-83256785
hg38 X:84001777-84001777 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.83256785 G>A (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.69045 (Deleterious) |
| FATHMM raw prediction score | 0.17936 (Tolerated) |
| Deleterious probability by DeFine | 0.0827 (Neutral) |
| Entrez Gene ID | 1538 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYLC1 (GeneCards) |
| Number of variants in CYLC1 in this database | 3 (view all the variants) |
| Full name | cylicin 1 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021922 OMIM: 300768 HGNC: HGNC:2582 Ensembl: ENSG00000183035 |
| Other names | CYCL1 |
| Summary | This gene encodes a sperm head cytoskeletal protein. The encoded protein is associated with the calyx of spermatozoa and spermatids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |