| Variant ID | 8975 |
|---|---|
| Entrez Gene ID | 222584 |
| Gene | FAM83B (GeneCards) |
| Location | hg19 6:55036696-55036696
hg38 6:55171898-55171898 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.55036696 G>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0805 |
| CADD Raw score (version 1.3) | 0.056242 (Deleterious) |
| FATHMM raw prediction score | 0.14785 (Tolerated) |
| Deleterious probability by DeFine | 0.407 (Neutral) |
| Entrez Gene ID | 222584 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM83B (GeneCards) |
| Number of variants in FAM83B in this database | 8 (view all the variants) |
| Full name | family with sequence similarity 83 member B |
| Band | 6p12.1 |
| Other IDs | Vega: OTTHUMG00000014899 HGNC: HGNC:21357 Ensembl: ENSG00000168143 |
| Other names | C6orf143 |
| 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; |