| Variant ID | 21468 |
|---|---|
| Entrez Gene ID | 55653 |
| Gene | BCAS4 (GeneCards) |
| Location | hg19 20:49465940-49465940
hg38 20:50849403-50849403 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.49465940 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1611 |
| CADD Raw score (version 1.3) | 0.240512 (Deleterious) |
| FATHMM raw prediction score | 0.15557 (Tolerated) |
| Deleterious probability by DeFine | 0.6441 (Deleterious) |
| Entrez Gene ID | 55653 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BCAS4 (GeneCards) |
| Number of variants in BCAS4 in this database | 2 (view all the variants) |
| Full name | breast carcinoma amplified sequence 4 |
| Band | 20q13.13 |
| Other IDs | Vega: OTTHUMG00000032735 OMIM: 607471 HGNC: HGNC:14367 Ensembl: ENSG00000124243 |
| Other names | CNOL |
| Summary | None |
| 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; |