Variant: rs137853312 

    present in Gene: FLNA
    present in Chromosome: X
    Position on Chromosome: 154360238
    Alleles of this Variant: G/A

rs137853312 in FLNA gene and FRONTOMETAPHYSEAL DYSPLASIA 1 PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 16596676 2006 In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

rs137853312 in FLNA gene and Frontometaphyseal dysplasia PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

rs137853312 in FLNA gene and Melnick-Needles Syndrome PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

rs137853312 in FLNA gene and OTOPALATODIGITAL SYNDROME, TYPE II PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.

rs137853312 in FLNA gene and Periventricular Heterotopia, X-Linked PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 16596676 2006 Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.

PMID 15523633 2005 A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.