| Variant ID | 8628 |
|---|---|
| Entrez Gene ID | 9542 |
| Gene | NRG2 (GeneCards) |
| Location | hg19 5:139390754-139390754
hg38 5:140011169-140011169 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.139390754 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.143 |
| CADD Raw score (version 1.3) | 0.47474 (Deleterious) |
| FATHMM raw prediction score | 0.19132 (Tolerated) |
| Deleterious probability by DeFine | 0.4748 (Neutral) |
| Entrez Gene ID | 9542 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRG2 (GeneCards) |
| Number of variants in NRG2 in this database | 3 (view all the variants) |
| Full name | neuregulin 2 |
| Band | 5q31.2 |
| Other IDs | Vega: OTTHUMG00000129241 OMIM: 603818 HGNC: HGNC:7998 Ensembl: ENSG00000158458 |
| Other names | DON1, HRG2, NTAK |
| Summary | This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.17 (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; |