| Variant ID | 822 |
|---|---|
| Entrez Gene ID | 4829 |
| Gene | NMBR (GeneCards) |
| Location | hg19 6:142396953-142396953
hg38 6:142075816-142075816 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.142396953 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 335 |
| Amino acid changes in protein | F > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4414553 |
| Variant occurences in COSMIC | 1(kidney) |
| EIGEN score | 1.6147 |
| CADD Raw score (version 1.3) | 1.109869 (Deleterious) |
| FATHMM raw prediction score | 0.94928 (Tolerated) |
| Deleterious probability by DeFine | 0.9452 (Deleterious) |
| Entrez Gene ID | 4829 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NMBR (GeneCards) |
| Number of variants in NMBR in this database | 1 (view all the variants) |
| Full name | neuromedin B receptor |
| Band | 6q24.1 |
| Other IDs | Vega: OTTHUMG00000015704 OMIM: 162341 HGNC: HGNC:7843 Ensembl: ENSG00000135577 |
| Other names | BB1, BB1R, NMB-R |
| Summary | This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |