| Variant ID | 1126 |
|---|---|
| Entrez Gene ID | 57596 |
| Gene | BEGAIN (GeneCards) |
| Location | hg19 14:101004885-101004885
hg38 14:100538548-100538548 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000014.8:g.101004885 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 401 |
| Amino acid changes in protein | R > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003247 |
|---|---|
| EIGEN score | 1.149 |
| CADD Raw score (version 1.3) | -0.053241 (Deleterious) |
| FATHMM raw prediction score | 0.24533 (Tolerated) |
| Deleterious probability by DeFine | 0.8796 (Deleterious) |
| Entrez Gene ID | 57596 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BEGAIN (GeneCards) |
| Number of variants in BEGAIN in this database | 2 (view all the variants) |
| Full name | brain enriched guanylate kinase associated |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171589 HGNC: HGNC:24163 Ensembl: ENSG00000183092 |
| Other names | None |
| 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; |