| Variant ID | 22019 |
|---|---|
| Entrez Gene ID | 27112 |
| Gene | FAM155B (GeneCards) |
| Location | hg19 X:68813800-68813800
hg38 X:69593956-69593956 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.68813800 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.200324 (Deleterious) |
| FATHMM raw prediction score | 0.05091 (Tolerated) |
| Deleterious probability by DeFine | 0.0493 (Neutral) |
| Entrez Gene ID | 27112 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM155B (GeneCards) |
| Number of variants in FAM155B in this database | 1 (view all the variants) |
| Full name | family with sequence similarity 155 member B |
| Band | Xq13.1 |
| Other IDs | Vega: OTTHUMG00000021756 HGNC: HGNC:30701 Ensembl: ENSG00000130054 |
| Other names | TED, TMEM28, CXorf63, bB57D9.1 |
| Summary | This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011] |
| 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; |