Overview

Variant ID 8080
Entrez Gene ID 64283
Gene ARHGEF28 (GeneCards)
Location hg19 5:73432100-73432100
hg38 5:74136275-74136275
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000005.9:g.73432100 C>T (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0412
CADD Raw score (version 1.3) -0.083665 (Deleterious)
FATHMM raw prediction score 0.13385 (Tolerated)
Deleterious probability by DeFine 0.6977 (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 #1

Individual ID 29217584.10 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;