| Variant ID | 10071 |
|---|---|
| Entrez Gene ID | 26240 |
| Gene | FAM50B (GeneCards) |
| Location | hg19 6:3933336-3933336
hg38 6:3933102-3933102 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.3933336 A>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 | -0.2321 |
| CADD Raw score (version 1.3) | -0.346403 (Deleterious) |
| FATHMM raw prediction score | 0.18338 (Tolerated) |
| Deleterious probability by DeFine | 0.6988 (Deleterious) |
| Entrez Gene ID | 26240 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM50B (GeneCards) |
| Number of variants in FAM50B in this database | 2 (view all the variants) |
| Full name | family with sequence similarity 50 member B |
| Band | 6p25.2 |
| Other IDs | Vega: OTTHUMG00000014147 OMIM: 614686 HGNC: HGNC:18789 Ensembl: ENSG00000238158 |
| Other names | X5L, D6S2654E |
| Summary | This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |