Variant: rs1557179659 

    present in Gene: FLNA
    present in Chromosome: X
    Position on Chromosome: 154367943
    Alleles of this Variant: C/T

rs1557179659 in FLNA gene and Dysmorphic features PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

PMID 10449643 1999 Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

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 16926860 2007 Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

PMID 15917206 2005 Filamin A: phenotypic diversity.

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

PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 28411558 2017 Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PMID 27739212 2017 Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 23037936 2013 Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 20598277 2010 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

rs1557179659 in FLNA gene and Multiple congenital anomalies PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

PMID 10449643 1999 Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

PMID 20598277 2010 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

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

PMID 23037936 2013 Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

PMID 28411558 2017 Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 15917206 2005 Filamin A: phenotypic diversity.

PMID 16926860 2007 Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

PMID 27739212 2017 Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

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