Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Arg28IlefsTer5 (p.R28Ifs*5), CFH p.Arg28IlefsTer5 (p.R28Ifs*5)
(
ENST00000695971.1,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695979.1,
ENST00000695976.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000359637.3,
ENST00000695984.1,
ENST00000695981.1,
ENST00000696027.1,
ENST00000696023.1,
ENST00000696029.1,
ENST00000630130.2,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696028.1,
ENST00000695968.1,
ENST00000696030.1 )
ENSG00000289697 c.3580+97_3580+120delCAACTTGTGCAAAAAGATAGAATC, CFH p.Pro1226_Asn1233del (p.P1226_N1233del) ( ENST00000696029.1, ENST00000696027.1, ENST00000696028.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695971.1, ENST00000695974.1, ENST00000695981.1, ENST00000695984.1 )
ENSG00000289697 p.Arg28IlefsTer5 (p.R28Ifs*5), CFH p.Arg28IlefsTer5 (p.R28Ifs*5) ( ENST00000359637.3, ENST00000367429.9, ENST00000630130.2, ENST00000695968.1, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695978.1, ENST00000695979.1, ENST00000695981.1, ENST00000695984.1, ENST00000695987.1, ENST00000696023.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1, ENST00000696030.1 )
ENSG00000289697 c.3580+97_3580+120delCAACTTGTGCAAAAAGATAGAATC, CFH p.Pro1226_Asn1233del (p.P1226_N1233del) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Tyr899Ter (p.Y899*), CFH p.Tyr899Ter (p.Y899*) ( ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695981.1, ENST00000695984.1, ENST00000696029.1, ENST00000696027.1, ENST00000696028.1 )
ENSG00000289697 p.Tyr899= (p.Y899=), CFH p.Tyr899= (p.Y899=) ( ENST00000695984.1, ENST00000695981.1, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000696028.1, ENST00000696027.1, ENST00000696029.1 )
ENSG00000289697 p.Glu1172Ter (p.E1172*), CFH p.Glu1172Ter (p.E1172*) ( ENST00000695984.1, ENST00000695981.1, ENST00000695974.1, ENST00000695971.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000696028.1, ENST00000696027.1, ENST00000696029.1 )
ENSG00000289697 p.Leu1189Arg (p.L1189R), CFH p.Leu1189Arg (p.L1189R) ( ENST00000696027.1, ENST00000696029.1, ENST00000696028.1, ENST00000695971.1, ENST00000695974.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000695984.1, ENST00000695981.1 )
ENSG00000289697 p.Ser1191Leu (p.S1191L), CFH p.Ser1191Leu (p.S1191L) ( ENST00000696029.1, ENST00000695976.1, ENST00000696028.1, ENST00000696027.1, ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695974.1, ENST00000695970.1, ENST00000367429.9 )
ENSG00000289697 c.3580+10T>C, CFH p.Val1197Ala (p.V1197A) ( ENST00000695981.1, ENST00000695984.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000696028.1, ENST00000696029.1, ENST00000696027.1 )
ENSG00000289697 c.3580+12G>T, CFH p.Glu1198Ter (p.E1198*) ( ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695984.1, ENST00000695981.1, ENST00000696027.1, ENST00000696029.1, ENST00000696028.1 )
ENSG00000289697 c.3580+48C>T, CFH p.Arg1210Cys (p.R1210C) ( ENST00000696028.1, ENST00000696027.1, ENST00000696029.1, ENST00000695984.1, ENST00000695981.1, ENST00000695971.1, ENST00000695974.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1 )
ENSG00000289697 c.3580+63C>G, CFH p.Arg1215Gly (p.R1215G) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+63C>T, CFH p.Arg1215Ter (p.R1215*) ( ENST00000367429.9, ENST00000696028.1, ENST00000695984.1, ENST00000695981.1, ENST00000695974.1, ENST00000695971.1, ENST00000695970.1, ENST00000695976.1, ENST00000696027.1, ENST00000696029.1 )
ENSG00000289697 p.Tyr899Ter (p.Y899*), CFH p.Tyr899Ter (p.Y899*) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Tyr899= (p.Y899=), CFH p.Tyr899= (p.Y899=) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Glu1172Ter (p.E1172*), CFH p.Glu1172Ter (p.E1172*) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Leu1189Arg (p.L1189R), CFH p.Leu1189Arg (p.L1189R) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Ser1191Leu (p.S1191L), CFH p.Ser1191Leu (p.S1191L) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+10T>C, CFH p.Val1197Ala (p.V1197A) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+12G>T, CFH p.Glu1198Ter (p.E1198*) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+48C>T, CFH p.Arg1210Cys (p.R1210C) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+63C>G, CFH p.Arg1215Gly (p.R1215G) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 c.3580+63C>T, CFH p.Arg1215Ter (p.R1215*) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- Hemolytic uremic syndrome, atypical, susceptibility to, 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.32
- Year of publication
- NA
Drugs