Annotation Detail
Information
- Associated Genes
- ADA
- Associated Variants
-
ADA c.1079-15T>A
(
ENST00000372874.9,
ENST00000536076.2,
ENST00000537820.2,
ENST00000695889.1,
ENST00000695927.1,
ENST00000695949.1,
ENST00000695991.1,
ENST00000695993.1,
ENST00000695995.1,
ENST00000696017.1,
ENST00000696058.1,
ENST00000696060.1,
ENST00000696061.1,
ENST00000696062.1,
ENST00000696063.1,
ENST00000696064.1,
ENST00000696065.1,
ENST00000696076.1,
ENST00000696077.1,
ENST00000696078.1,
ENST00000696079.1,
ENST00000696080.1,
ENST00000696082.1,
ENST00000372887.5 )
ADA p.Arg156His (p.R156H) ( ENST00000372874.9, ENST00000536076.2, ENST00000537820.2, ENST00000695889.1, ENST00000695927.1, ENST00000695949.1, ENST00000695991.1, ENST00000695993.1, ENST00000695995.1, ENST00000696017.1, ENST00000696058.1, ENST00000696060.1, ENST00000696061.1, ENST00000696062.1, ENST00000696063.1, ENST00000696064.1, ENST00000696065.1, ENST00000696076.1, ENST00000696077.1, ENST00000696078.1, ENST00000696079.1, ENST00000696080.1, ENST00000696082.1 )
ADA c.1079-15T>A ( ENST00000372874.9, ENST00000536076.2, ENST00000537820.2, ENST00000695889.1, ENST00000695927.1, ENST00000695949.1, ENST00000695991.1, ENST00000695993.1, ENST00000695995.1, ENST00000696017.1, ENST00000696058.1, ENST00000696060.1, ENST00000696061.1, ENST00000696062.1, ENST00000696063.1, ENST00000696064.1, ENST00000696065.1, ENST00000696076.1, ENST00000696077.1, ENST00000696078.1, ENST00000696079.1, ENST00000696080.1, ENST00000696082.1, ENST00000372887.5 )
ADA p.Arg156His (p.R156H) ( ENST00000372874.9, ENST00000536076.2, ENST00000537820.2, ENST00000695889.1, ENST00000695927.1, ENST00000695949.1, ENST00000695991.1, ENST00000695993.1, ENST00000695995.1, ENST00000696017.1, ENST00000696058.1, ENST00000696060.1, ENST00000696061.1, ENST00000696062.1, ENST00000696063.1, ENST00000696064.1, ENST00000696065.1, ENST00000696076.1, ENST00000696077.1, ENST00000696078.1, ENST00000696079.1, ENST00000696080.1, ENST00000696082.1 ) - Associated Disease
- SCID due to ADA deficiency, delayed onset
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs