| Variant ID | 1008 |
|---|---|
| Entrez Gene ID | 51059 |
| Gene | FAM135B (GeneCards) |
| Location | hg19 8:139268961-139268961
hg38 8:138256718-138256718 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000008.10:g.139268961 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 113 |
| Amino acid changes in protein | V > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.6654 |
| CADD Raw score (version 1.3) | 1.929534 (Deleterious) |
| FATHMM raw prediction score | 0.98862 (Tolerated) |
| Deleterious probability by DeFine | 0.9053 (Deleterious) |
| Entrez Gene ID | 51059 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM135B (GeneCards) |
| Number of variants in FAM135B in this database | 7 (view all the variants) |
| Full name | family with sequence similarity 135 member B |
| Band | 8q24.23 |
| Other IDs | Vega: OTTHUMG00000149864 HGNC: HGNC:28029 Ensembl: ENSG00000147724 |
| Other names | C8ORFK32 |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |