SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 ×
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: rs1554769022
rs1554769022 		1.000 9 128632307 missense variant C/G snv
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.700 0
dbSNP: rs1564197227
rs1564197227 		1.000 9 128568850 missense variant G/A snv
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.700 0
dbSNP: rs1564286708
rs1564286708 		1.000 9 128611753 missense variant C/T snv
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.700 0
dbSNP: rs398122865
rs398122865 		1.000 9 128627413 inframe deletion AGC/- delins
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.700 0
dbSNP: rs587784438
rs587784438 		1.000 9 128627423 inframe deletion GAG/- delins
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.700 0
dbSNP: rs587784440
rs587784440 		0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins
CUI: C3150731
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 		0.700 0