Overview

Variant ID 26696
Entrez Gene ID 3084
Gene NRG1 (GeneCards)
Location hg19 8:32640140-32640140
hg38 8:32782622-32782622
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000008.10:g.32640140 G>A (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 146364022

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.5022
CADD Raw score (version 1.3) -0.28077 (Deleterious)
FATHMM raw prediction score 0.071 (Tolerated)
Deleterious probability by DeFine 0.2778 (Neutral)
Entrez Gene ID 3084 (NCBI Gene)
Official Gene Symbol NRG1 (GeneCards)
Number of variants in NRG1 in this database 23 (view all the variants)
Full name neuregulin 1
Band 8p12
Other IDs Vega: OTTHUMG00000163918
OMIM: 142445
HGNC: HGNC:7997
Ensembl: ENSG00000157168
Other names GGF, HGL, HRG, NDF, ARIA, GGF2, HRG1, HRGA, SMDF, MST131, MSTP131, NRG1-IT2
Summary The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID