Variant: rs80356503

present in Gene: FLNB present in Chromosome: 3 Position on Chromosome: 58138491 Alleles of this Variant: G/A

rs80356503 in FLNB gene and Larsen syndrome PMID 16801345 2007 A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

PMID 14991055 2004 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.