| Variant ID | 23689 |
|---|---|
| Entrez Gene ID | 121256 |
| Gene | TMEM132D (GeneCards) |
| Location | hg19 12:129958073-129958073
hg38 12:129473528-129473528 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.129958073 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006556 |
|---|---|
| EIGEN score | -0.8801 |
| CADD Raw score (version 1.3) | -0.826857 (Deleterious) |
| FATHMM raw prediction score | 0.02905 (Tolerated) |
| Deleterious probability by DeFine | 0.2049 (Neutral) |
| Entrez Gene ID | 121256 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM132D (GeneCards) |
| Number of variants in TMEM132D in this database | 17 (view all the variants) |
| Full name | transmembrane protein 132D |
| Band | 12q24.33 |
| Other IDs | Vega: OTTHUMG00000168400 OMIM: 611257 HGNC: HGNC:29411 Ensembl: ENSG00000151952 |
| Other names | MOLT, PPP1R153 |
| Summary | None |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |