| Variant ID | 7902 |
|---|---|
| Entrez Gene ID | 64283 |
| Gene | ARHGEF28 (GeneCards) |
| Location | hg19 5:72992096-72992096
hg38 5:73696271-73696271 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.72992096 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.108 |
| CADD Raw score (version 1.3) | -0.228095 (Deleterious) |
| FATHMM raw prediction score | 0.0621 (Tolerated) |
| Deleterious probability by DeFine | 0.5647 (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 | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |