| Variant ID | 13156 |
|---|---|
| Entrez Gene ID | 55151 |
| Gene | TMEM38B (GeneCards) |
| Location | hg19 9:108602846-108602846
hg38 9:105840565-105840565 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000009.11:g.108602846 T>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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.234 |
| CADD Raw score (version 1.3) | 0.11498 (Deleterious) |
| FATHMM raw prediction score | 0.10273 (Tolerated) |
| Deleterious probability by DeFine | 0.4322 (Neutral) |
| Entrez Gene ID | 55151 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM38B (GeneCards) |
| Number of variants in TMEM38B in this database | 5 (view all the variants) |
| Full name | transmembrane protein 38B |
| Band | 9q31.2 |
| Other IDs | Vega: OTTHUMG00000020429 OMIM: 611236 HGNC: HGNC:25535 Ensembl: ENSG00000095209 |
| Other names | OI14, TRICB, TRIC-B, C9orf87, D4Ertd89e, bA219P18.1 |
| Summary | This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012] |
| Individual ID | 29217584.08 (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; |