Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82679729 splice region variant C/T snv
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs1057519269
rs1057519269
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82679729 splice region variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82680174 splice donor variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519270
rs1057519270
AP3B2 ; CPEB1-AS1
0.925 0.040 15 82680174 splice donor variant C/G snv
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs1057519271
rs1057519271
AP3B2 ; CPEB1-AS1
1.000 15 82663149 frameshift variant AGTG/- delins 8.1E-06
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs1057519272
rs1057519272
AP3B2 ; CPEB1-AS1
1.000 15 82666762 frameshift variant C/- delins
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0
dbSNP: rs775024756
rs775024756
AP3B2 ; CPEB1-AS1
1.000 15 82689223 stop gained G/A snv 4.0E-06
CUI: C4310637
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 		0.700 0