FTL, ferritin light chain, 2512

N. diseases: 135; N. variants: 16
Disease: Neuroferritinopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167274
rs1114167274 		1.000 0.080 19 48966701 frameshift variant -/CT delins
CUI: C1853578
Disease: Neuroferritinopathy
Neuroferritinopathy 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0