| Variant ID | 12696 |
|---|---|
| Entrez Gene ID | 3084 |
| Gene | NRG1 (GeneCards) |
| Location | hg19 8:32494233-32494233
hg38 8:32636714-32636714 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.32494233 G>A (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.324 |
| CADD Raw score (version 1.3) | 1.608794 (Deleterious) |
| FATHMM raw prediction score | 0.19286 (Tolerated) |
| Deleterious probability by DeFine | 0.3562 (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 ID | 29217584.19 (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 |
| 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; |