present in Gene: FLNA
present in Chromosome: X
Position on Chromosome: 154367857
Alleles of this Variant: C/A
rs137853314 in
FLNA gene and
Oto-Palato-digital syndrome type 1
PMID 15940695 2005 We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.
PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.