| Variant ID | 22285 |
|---|---|
| Entrez Gene ID | 340578 |
| Gene | DCAF12L2 (GeneCards) |
| Location | hg19 X:125447380-125447380
hg38 X:126313397-126313397 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.125447380 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) | 0.091511 (Deleterious) |
| FATHMM raw prediction score | 0.08854 (Tolerated) |
| Deleterious probability by DeFine | 0.1471 (Neutral) |
| Entrez Gene ID | 340578 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCAF12L2 (GeneCards) |
| Number of variants in DCAF12L2 in this database | 5 (view all the variants) |
| Full name | DDB1 and CUL4 associated factor 12 like 2 |
| Band | Xq25 |
| Other IDs | Vega: OTTHUMG00000022348 HGNC: HGNC:32950 Ensembl: ENSG00000198354 |
| Other names | WDR40C |
| Summary | This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010] |
| 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; |