| Variant ID | 13637 |
|---|---|
| Entrez Gene ID | 1620 |
| Gene | BRINP1 (GeneCards) |
| Location | hg19 9:122485544-122485544
hg38 9:119723266-119723266 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.122485544 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0541 |
| CADD Raw score (version 1.3) | 0.032812 (Deleterious) |
| FATHMM raw prediction score | 0.13685 (Tolerated) |
| Deleterious probability by DeFine | 0.5786 (Deleterious) |
| Entrez Gene ID | 1620 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BRINP1 (GeneCards) |
| Number of variants in BRINP1 in this database | 15 (view all the variants) |
| Full name | BMP/retinoic acid inducible neural specific 1 |
| Band | 9q33.1 |
| Other IDs | Vega: OTTHUMG00000021020 OMIM: 602865 HGNC: HGNC:2687 Ensembl: ENSG00000078725 |
| Other names | DBC1, FAM5A, DBCCR1 |
| Summary | This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] |
| 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; |