| Variant ID | 831 |
|---|---|
| Entrez Gene ID | 54972 |
| Gene | TMEM132A (GeneCards) |
| Location | hg19 11:60696400-60696400
hg38 11:60928928-60928928 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.60696400 G>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 278 |
| Amino acid changes in protein | R > R |
| 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 |
|---|---|
| EIGEN score | 0.8222 |
| CADD Raw score (version 1.3) | 0.749996 (Deleterious) |
| FATHMM raw prediction score | 0.44321 (Tolerated) |
| Deleterious probability by DeFine | 0.7359 (Deleterious) |
| Entrez Gene ID | 54972 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM132A (GeneCards) |
| Number of variants in TMEM132A in this database | 1 (view all the variants) |
| Full name | transmembrane protein 132A |
| Band | 11q12.2 |
| Other IDs | Vega: OTTHUMG00000167803 OMIM: 617363 HGNC: HGNC:31092 Ensembl: ENSG00000006118 |
| Other names | GBP, HSPA5BP1 |
| Summary | This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| 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; |