Overview

Variant ID 10661
Entrez Gene ID 2887
Gene GRB10 (GeneCards)
Location hg19 7:50786659-50786659
hg38 7:50718962-50718962
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000007.13:g.50786659 T>C (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 159138663

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4385
CADD Raw score (version 1.3) -0.332672 (Deleterious)
FATHMM raw prediction score 0.16146 (Tolerated)
Deleterious probability by DeFine 0.4051 (Neutral)
Entrez Gene ID 2887 (NCBI Gene)
Official Gene Symbol GRB10 (GeneCards)
Number of variants in GRB10 in this database 5 (view all the variants)
Full name growth factor receptor bound protein 10
Band 7p12.1
Other IDs Vega: OTTHUMG00000150622
OMIM: 601523
HGNC: HGNC:4564
Ensembl: ENSG00000106070
Other names RSS, IRBP, MEG1, GRB-IR, Grb-10
Summary The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]

Individual #1

Individual ID 29217584.08 (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;