Variant: rs1553897738

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.