| Variant ID | 7123 |
|---|---|
| Entrez Gene ID | 8929 |
| Gene | PHOX2B (GeneCards) |
| Location | hg19 4:41794868-41794868
hg38 4:41792851-41792851 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.41794868 A>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3134 |
| CADD Raw score (version 1.3) | 0.043631 (Deleterious) |
| FATHMM raw prediction score | 0.06405 (Tolerated) |
| Deleterious probability by DeFine | 0.3579 (Neutral) |
| Entrez Gene ID | 8929 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PHOX2B (GeneCards) |
| Number of variants in PHOX2B in this database | 3 (view all the variants) |
| Full name | paired like homeobox 2b |
| Band | 4p13 |
| Other IDs | Vega: OTTHUMG00000099379 OMIM: 603851 HGNC: HGNC:9143 Ensembl: ENSG00000109132 |
| Other names | CCHS, PMX2B, NBLST2, NBPhox |
| Summary | The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016] |
| 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; |