| Variant ID | 13881 |
|---|---|
| Entrez Gene ID | 83938 |
| Gene | C10orf11 (GeneCards) |
| Location | hg19 10:77743218-77743218
hg38 10:75983460-75983460 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.77743218 T>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0495 |
| CADD Raw score (version 1.3) | 0.325468 (Deleterious) |
| FATHMM raw prediction score | 0.10763 (Tolerated) |
| Deleterious probability by DeFine | 0.2762 (Neutral) |
| Entrez Gene ID | 83938 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C10orf11 (GeneCards) |
| Number of variants in LRMDA in this database | 13 (view all the variants) |
| Full name | leucine rich melanocyte differentiation associated |
| Band | 10q22.2-q22.3 |
| Other IDs | Vega: OTTHUMG00000018532 OMIM: 614537 HGNC: HGNC:23405 Ensembl: ENSG00000148655 |
| Other names | CDA017, C10orf11 |
| Summary | This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015] |
| 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; |