rs782549964, FLNA

N. diseases: 1
Disease: Paroxysmal nocturnal hemoglobinuria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paroxysmal nocturnal hemoglobinuria
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