| Variant ID | 107 |
|---|---|
| Entrez Gene ID | 8929 |
| Gene | PHOX2B (GeneCards) |
| Location | hg19 4:41750567-41750567
hg38 4:41748550-41748550 |
| Disease | Congenital central hypoventilation syndrome (view all the variants in this disease) |
| Method | ABI3100 |
| Mutation(HGVS format) | NC_000004.11:g.41750567_41750567 ins TTTTTTTT (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 3 |
| Position in protein | 20 |
| Amino acid changes in protein | NA > NA |
| Amino acid indel | insAAAAAAAA |
| Position in cDNA | 61 |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_003924.3 |
| mRNA length | 945 |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.9539 (Deleterious) |
| 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 | 22821709.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 22821709 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 2 ( female: 1; ) |
| Disease | Congenital central hypoventilation syndrome (view all the variants in this disease) |
| OMIM ID | 209880 |
| Pubmed ID | 22821709 |
|---|---|
| Title | Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS) |
| Journal | American Journal of Medical Genetics |
| Publication date | 2012.09 |
| Disease | Congenital central hypoventilation syndrome |
| Number of cases | Female cases: 1; |