| Variant ID | 1095 |
|---|---|
| Entrez Gene ID | 64283 |
| Gene | ARHGEF28 (GeneCards) |
| Location | hg19 5:73048914-73048914
hg38 5:73753089-73753089 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.73048914 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 121 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1644 |
| CADD Raw score (version 1.3) | 1.859084 (Deleterious) |
| FATHMM raw prediction score | 0.26433 (Tolerated) |
| SIFT score | 0.187 (Tolerated) |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | 1.405 (Tolerated) |
| PROVEAN score | -0.19 (Tolerated) |
| MetaSVM score | -1.033 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.242 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.599 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.913 |
| Deleterious probability by iFish2 | 0.2162 (Neutral) |
| Deleterious probability by DeFine | 0.8877 (Deleterious) |
| Entrez Gene ID | 64283 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ARHGEF28 (GeneCards) |
| Number of variants in ARHGEF28 in this database | 10 (view all the variants) |
| Full name | Rho guanine nucleotide exchange factor 28 |
| Band | 5q13.2 |
| Other IDs | Vega: OTTHUMG00000162454 OMIM: 612790 HGNC: HGNC:30322 Ensembl: ENSG00000214944 |
| Other names | RIP2, RGNEF, p190RHOGEF |
| Summary | This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010] |
| 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; |