| Variant ID | 16046 |
|---|---|
| Entrez Gene ID | 56946 |
| Gene | C11orf30 (GeneCards) |
| Location | hg19 11:76229751-76229751
hg38 11:76518707-76518707 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.76229751 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0222 |
|---|---|
| EIGEN score | -0.7308 |
| CADD Raw score (version 1.3) | -0.584708 (Deleterious) |
| FATHMM raw prediction score | 0.05901 (Tolerated) |
| Deleterious probability by DeFine | 0.4548 (Neutral) |
| Entrez Gene ID | 56946 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C11orf30 (GeneCards) |
| Number of variants in EMSY in this database | 2 (view all the variants) |
| Full name | EMSY, BRCA2 interacting transcriptional repressor |
| Band | 11q13.5 |
| Other IDs | Vega: OTTHUMG00000165282 OMIM: 608574 HGNC: HGNC:18071 Ensembl: ENSG00000158636 |
| Other names | GL002, C11orf30 |
| Summary | None |
| Individual ID | 29217584.24 (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; |