| Variant ID | 19211 |
|---|---|
| Entrez Gene ID | 663 |
| Gene | BNIP2 (GeneCards) |
| Location | hg19 15:60211923-60211923
hg38 15:59919724-59919724 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.60211923 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1272 |
| CADD Raw score (version 1.3) | 0.131681 (Deleterious) |
| FATHMM raw prediction score | 0.264 (Tolerated) |
| Deleterious probability by DeFine | 0.3366 (Neutral) |
| Entrez Gene ID | 663 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BNIP2 (GeneCards) |
| Number of variants in BNIP2 in this database | 8 (view all the variants) |
| Full name | BCL2 interacting protein 2 |
| Band | 15q22.2 |
| Other IDs | Vega: OTTHUMG00000132727 OMIM: 603292 HGNC: HGNC:1083 Ensembl: ENSG00000140299 |
| Other names | NIP2, BNIP-2 |
| Summary | This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] |
| 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; |