Overview

Variant ID 8597
Entrez Gene ID 285704
Gene RGMB (GeneCards)
Location hg19 5:98145543-98145543
hg38 5:98809839-98809839
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000005.9:g.98145543 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 -0.1801
CADD Raw score (version 1.3) 0.221985 (Deleterious)
FATHMM raw prediction score 0.10407 (Tolerated)
Deleterious probability by DeFine 0.0797 (Neutral)
Entrez Gene ID 285704 (NCBI Gene)
Official Gene Symbol RGMB (GeneCards)
Number of variants in RGMB in this database 1 (view all the variants)
Full name repulsive guidance molecule BMP co-receptor b
Band 5q15
Other IDs Vega: OTTHUMG00000162745
OMIM: 612687
HGNC: HGNC:26896
Ensembl: ENSG00000174136
Other names DRAGON
Summary RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009]

Individual #1

Individual ID 29217584.16 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

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;