Annotation Detail
Information
- Associated Genes
- SDHC
- Associated Variants
-
SDHC p.Arg15Ter (p.R15*)
(
ENST00000714064.1,
ENST00000513009.5,
ENST00000515731.2,
ENST00000714063.1,
ENST00000367975.7,
ENST00000714066.1,
ENST00000432287.6,
ENST00000342751.8,
ENST00000714065.1,
ENST00000392169.6 )
SDHC c.78-1G>A ( ENST00000513009.5, ENST00000714064.1, ENST00000367975.7, ENST00000714063.1, ENST00000515731.2, ENST00000342751.8, ENST00000432287.6, ENST00000714066.1, ENST00000392169.6, ENST00000714065.1 )
SDHC p.His127Arg (p.H127R) ( ENST00000515731.2, ENST00000367975.7, ENST00000714063.1, ENST00000714064.1, ENST00000513009.5, ENST00000714065.1, ENST00000392169.6, ENST00000714066.1, ENST00000342751.8, ENST00000432287.6 )
SDHC p.Arg133Ter (p.R133*) ( ENST00000342751.8, ENST00000432287.6, ENST00000714066.1, ENST00000392169.6, ENST00000714065.1, ENST00000513009.5, ENST00000714064.1, ENST00000367975.7, ENST00000714063.1, ENST00000515731.2 )
SDHC p.Arg15Ter (p.R15*) ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1, ENST00000714065.1, ENST00000714066.1 )
SDHC c.78-1G>A ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1, ENST00000714065.1, ENST00000714066.1 )
SDHC p.His127Arg (p.H127R) ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1, ENST00000714065.1, ENST00000714066.1 )
SDHC p.Arg133Ter (p.R133*) ( ENST00000342751.8, ENST00000367975.7, ENST00000392169.6, ENST00000432287.6, ENST00000513009.5, ENST00000515731.2, ENST00000714063.1, ENST00000714064.1, ENST00000714065.1, ENST00000714066.1 ) - Associated Disease
- Neoplastic Syndromes, Hereditary
- 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