present in Gene: PHOX2B
present in Chromosome: 4
Position on Chromosome: 41745807
Alleles of this Variant: T/C
rs1553897738 in
PHOX2B gene and
Overgrowth
PMID 12640453 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
PMID 15024693 2004 Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.
PMID 16888290 2006 Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
PMID 28371199 2017 Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.