| Variant ID | 22014 |
|---|---|
| Entrez Gene ID | 170062 |
| Gene | FAM47B (GeneCards) |
| Location | hg19 X:35782917-35782917
hg38 X:35764800-35764800 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.35782917 C>T (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) | -0.164034 (Deleterious) |
| FATHMM raw prediction score | 0.08515 (Tolerated) |
| Deleterious probability by DeFine | 0.3256 (Neutral) |
| Entrez Gene ID | 170062 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM47B (GeneCards) |
| Number of variants in FAM47B in this database | 9 (view all the variants) |
| Full name | family with sequence similarity 47 member B |
| Band | Xp21.1 |
| Other IDs | Vega: OTTHUMG00000021345 HGNC: HGNC:26659 Ensembl: ENSG00000189132 |
| Other names | None |
| Summary | None |
| 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; |