Annotation Detail
Information
- Associated Genes
- CFH
- Associated Variants
-
ENSG00000289697 c.350+6T>G, CFH c.350+6T>G
(
ENST00000696023.1,
ENST00000696029.1,
ENST00000630130.2,
ENST00000695987.1,
ENST00000695978.1,
ENST00000696027.1,
ENST00000695968.1,
ENST00000696030.1,
ENST00000696028.1,
ENST00000695976.1,
ENST00000695970.1,
ENST00000367429.9,
ENST00000695969.1,
ENST00000695974.1,
ENST00000695971.1,
ENST00000695979.1,
ENST00000695981.1,
ENST00000359637.3,
ENST00000695984.1 )
ENSG00000289697 p.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695979.1, ENST00000695969.1, ENST00000695974.1, ENST00000695971.1, ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695987.1, ENST00000695978.1, ENST00000696029.1, ENST00000696023.1, ENST00000630130.2, ENST00000696027.1 )
ENSG00000289697 p.Gln408Ter (p.Q408*), CFH p.Gln408Ter (p.Q408*) ( ENST00000695968.1, ENST00000696030.1, ENST00000696028.1, ENST00000695978.1, ENST00000695987.1, ENST00000630130.2, ENST00000696023.1, ENST00000696029.1, ENST00000696027.1, ENST00000695981.1, ENST00000695984.1, ENST00000359637.3, ENST00000695970.1, ENST00000367429.9, ENST00000695976.1, ENST00000695979.1, ENST00000695974.1, ENST00000695969.1, ENST00000695971.1 )
ENSG00000289697 p.Arg1078Ser (p.R1078S), CFH p.Arg1078Ser (p.R1078S) ( ENST00000695976.1, ENST00000367429.9, ENST00000695970.1, ENST00000695974.1, ENST00000695971.1, ENST00000695981.1, ENST00000695984.1, ENST00000696029.1, ENST00000696027.1, ENST00000696028.1 )
ENSG00000289697 c.350+6T>G, CFH c.350+6T>G ( 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.His402Tyr (p.H402Y), CFH p.His402Tyr (p.H402Y) ( 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.Gln408Ter (p.Q408*), CFH p.Gln408Ter (p.Q408*) ( 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.Arg1078Ser (p.R1078S), CFH p.Arg1078Ser (p.R1078S) ( ENST00000367429.9, ENST00000695970.1, ENST00000695971.1, ENST00000695974.1, ENST00000695976.1, ENST00000695981.1, ENST00000695984.1, ENST00000696027.1, ENST00000696028.1, ENST00000696029.1 ) - Associated Disease
- BASAL LAMINAR DRUSEN (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.241357209360402
- Year of publication
- NA
Drugs