Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 p.Lys224del (p.K224del), CFH p.Lys224del (p.K224del)
(
ENST00000696027.1,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696029.1,
ENST00000696023.1,
ENST00000630130.2,
ENST00000696028.1,
ENST00000695968.1,
ENST00000696030.1,
ENST00000695979.1,
ENST00000695974.1,
ENST00000695969.1,
ENST00000695971.1,
ENST00000695976.1,
ENST00000367429.9,
ENST00000695970.1,
ENST00000695984.1,
ENST00000359637.3,
ENST00000695981.1 )
ENSG00000289697 p.Lys224del (p.K224del), CFH p.Lys224del (p.K224del) ( 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 p.Arg127His (p.R127H), CFH p.Arg127His (p.R127H) ( ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695971.1, ENST00000695969.1, ENST00000695974.1, ENST00000695979.1, ENST00000695981.1, ENST00000359637.3, ENST00000695984.1 )
ENSG00000289697 p.Arg127Leu (p.R127L), CFH p.Arg127Leu (p.R127L) ( ENST00000695981.1, ENST00000359637.3, ENST00000695984.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695979.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696027.1 )
ENSG00000289697 p.Glu189Lys (p.E189K), CFH p.Glu189Lys (p.E189K) ( ENST00000696027.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000695978.1, ENST00000695987.1, ENST00000696028.1, ENST00000695968.1, ENST00000696030.1, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1, ENST00000695979.1, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000359637.3, ENST00000695984.1, ENST00000695981.1 )
ENSG00000289697 p.Glu189Ter (p.E189*), CFH p.Glu189Ter (p.E189*) ( ENST00000696028.1, ENST00000630130.2, ENST00000695970.1, ENST00000695976.1, ENST00000695974.1, ENST00000695968.1, ENST00000696030.1, ENST00000695978.1, ENST00000695987.1, ENST00000696023.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000367429.9, ENST00000695979.1, ENST00000695969.1, ENST00000695971.1 )
ENSG00000289697 p.Cys431Ser (p.C431S), CFH p.Cys431Ser (p.C431S) ( ENST00000696028.1, ENST00000695968.1, ENST00000696030.1, ENST00000696027.1, ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000695984.1, ENST00000359637.3, ENST00000695981.1, ENST00000695979.1, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1 )
ENSG00000289697 p.Cys431Gly (p.C431G), CFH p.Cys431Gly (p.C431G) ( ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000696027.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695979.1, ENST00000695971.1, ENST00000695974.1, ENST00000695969.1, ENST00000695981.1, ENST00000695984.1, ENST00000359637.3 )
ENSG00000289697 p.Cys536Arg (p.C536R), CFH p.Cys536Arg (p.C536R) ( ENST00000696028.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000367429.9, ENST00000695970.1, ENST00000695976.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1 )
ENSG00000289697 p.Cys959Tyr (p.C959Y), CFH p.Cys959Tyr (p.C959Y) ( ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000695974.1, ENST00000696029.1 )
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 p.Arg127His (p.R127H), CFH p.Arg127His (p.R127H) ( 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 p.Arg127Leu (p.R127L), CFH p.Arg127Leu (p.R127L) ( 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 p.Glu189Lys (p.E189K), CFH p.Glu189Lys (p.E189K) ( 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 p.Glu189Ter (p.E189*), CFH p.Glu189Ter (p.E189*) ( 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 p.Cys431Ser (p.C431S), CFH p.Cys431Ser (p.C431S) ( 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 p.Cys431Gly (p.C431G), CFH p.Cys431Gly (p.C431G) ( 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 p.Cys536Arg (p.C536R), CFH p.Cys536Arg (p.C536R) ( ENST00000367429.9, ENST00000695969.1, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 )
ENSG00000289697 p.Cys959Tyr (p.C959Y), CFH p.Cys959Tyr (p.C959Y) ( 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 ) - Associated Disease
- Complement Factor H Deficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.482171534976642
- Year of publication
- NA
Drugs