| Variant ID | 14909 |
|---|---|
| Entrez Gene ID | 10718 |
| Gene | NRG3 (GeneCards) |
| Location | hg19 10:85433624-85433624
hg38 10:83673868-83673868 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.85433624 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4617 |
| CADD Raw score (version 1.3) | 0.935607 (Deleterious) |
| FATHMM raw prediction score | 0.31288 (Tolerated) |
| Deleterious probability by DeFine | 0.6554 (Deleterious) |
| Entrez Gene ID | 10718 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRG3 (GeneCards) |
| Number of variants in NRG3 in this database | 41 (view all the variants) |
| Full name | neuregulin 3 |
| Band | 10q23.1 |
| Other IDs | Vega: OTTHUMG00000018626 OMIM: 605533 HGNC: HGNC:7999 Ensembl: ENSG00000185737 |
| Other names | HRG3, pro-NRG3 |
| Summary | This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |