FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Paroxysmal nocturnal hemoglobinuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782549964
rs782549964
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0024790
Disease:
Paroxysmal nocturnal hemoglobinuria 		0.010 GeneticVariation BEFREE Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. 23636902 2013
dbSNP: rs137853315
rs137853315
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0024790
Disease:
Paroxysmal nocturnal hemoglobinuria 		0.010 GeneticVariation BEFREE The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype. 15994863 2006