| Variant ID | 961 |
|---|---|
| Entrez Gene ID | 55160 |
| Gene | ARHGEF10L (GeneCards) |
| Location | hg19 1:17934331-17934331
hg38 1:17607836-17607836 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.17934331 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 156 |
| Amino acid changes in protein | H > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.276 |
| CADD Raw score (version 1.3) | 0.607477 (Deleterious) |
| FATHMM raw prediction score | 0.19101 (Tolerated) |
| Deleterious probability by DeFine | 0.913 (Deleterious) |
| Entrez Gene ID | 55160 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF10L (GeneCards) |
| Number of variants in ARHGEF10L in this database | 1 (view all the variants) |
| Full name | Rho guanine nucleotide exchange factor 10 like |
| Band | 1p36.13 |
| Other IDs | Vega: OTTHUMG00000002514 OMIM: 612494 HGNC: HGNC:25540 Ensembl: ENSG00000074964 |
| Other names | GrinchGEF |
| Summary | This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016] |
| 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; |