| Variant ID | 20132 |
|---|---|
| Entrez Gene ID | 56934 |
| Gene | CA10 (GeneCards) |
| Location | hg19 17:49871822-49871822
hg38 17:51794462-51794462 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.49871822 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0316 |
| CADD Raw score (version 1.3) | 0.875146 (Deleterious) |
| FATHMM raw prediction score | 0.10522 (Tolerated) |
| Deleterious probability by DeFine | 0.3782 (Neutral) |
| Entrez Gene ID | 56934 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CA10 (GeneCards) |
| Number of variants in CA10 in this database | 14 (view all the variants) |
| Full name | carbonic anhydrase 10 |
| Band | 17q21.33-q22 |
| Other IDs | Vega: OTTHUMG00000177544 OMIM: 604642 HGNC: HGNC:1369 Ensembl: ENSG00000154975 |
| Other names | CARPX, CA-RPX, HUCEP-15 |
| Summary | This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (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; |