Variant: rs797045044 

    present in Gene: FLNA
    present in Chromosome: X
    Position on Chromosome: 154358228
    Alleles of this Variant: C/T

rs797045044 in FLNA gene and Ehlers-Danlos syndrome type 5 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs797045044 in FLNA gene and Frontometaphyseal dysplasia PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

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

rs797045044 in FLNA gene and Melnick-Needles Syndrome PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

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

rs797045044 in FLNA gene and OTOPALATODIGITAL SYNDROME, TYPE II PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

rs797045044 in FLNA gene and Periventricular Heterotopia, X-Linked PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 26804200 2016 A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.