Variant: rs137853311 

    present in Gene: FLNA
    present in Chromosome: X
    Position on Chromosome: 154364582
    Alleles of this Variant: G/A

rs137853311 in FLNA gene and Periventricular Heterotopia, X-Linked PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

PMID 15249610 2004 Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

PMID 15668422 2005 Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

PMID 16299064 2006 A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

PMID 15994863 2006 Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.