| Variant ID | 8972 |
|---|---|
| Entrez Gene ID | 4277 |
| Gene | MICB (GeneCards) |
| Location | hg19 6:31469374-31469374
hg38 6:31501597-31501597 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.31469374 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3961 |
| CADD Raw score (version 1.3) | -0.282939 (Deleterious) |
| FATHMM raw prediction score | 0.05933 (Tolerated) |
| Deleterious probability by DeFine | 0.075 (Neutral) |
| Entrez Gene ID | 4277 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MICB (GeneCards) |
| Number of variants in MICB in this database | 2 (view all the variants) |
| Full name | MHC class I polypeptide-related sequence B |
| Band | 6p21.33 |
| Other IDs | IMGT/GENE-DB: MICB Vega: OTTHUMG00000031074 OMIM: 602436 HGNC: HGNC:7091 Ensembl: ENSG00000204516 |
| Other names | PERB11.2 |
| Summary | This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] |
| 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; |