| Variant ID | 22379 |
|---|---|
| Entrez Gene ID | 63932 |
| Gene | CXorf56 (GeneCards) |
| Location | hg19 X:118678299-118678299
hg38 X:119544336-119544336 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.118678299 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 1.365225 (Deleterious) |
| FATHMM raw prediction score | 0.16988 (Tolerated) |
| Deleterious probability by DeFine | 0.4728 (Neutral) |
| Entrez Gene ID | 63932 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CXorf56 (GeneCards) |
| Number of variants in CXorf56 in this database | 2 (view all the variants) |
| Full name | chromosome X open reading frame 56 |
| Band | Xq24 |
| Other IDs | Vega: OTTHUMG00000022276 OMIM: 301012 HGNC: HGNC:26239 Ensembl: ENSG00000018610 |
| Other names | MRX107 |
| Summary | While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |