Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Arg633Ter (p.R633*)
(
ENST00000393241.8,
ENST00000407439.7,
ENST00000323977.7,
ENST00000323929.8 )
MRE11 p.Arg633= (p.R633=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg572Ter (p.R572*) ( ENST00000323929.8, ENST00000407439.7, ENST00000393241.8, ENST00000323977.7 )
MRE11 p.Thr481Lys (p.T481K) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8 )
MRE11 p.Trp210Cys (p.W210C) ( ENST00000540013.5, ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8 )
MRE11 p.Pro166Leu (p.P166L) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8, ENST00000540013.5 )
MRE11 p.Asn117Ser (p.N117S) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8, ENST00000540013.5 )
MRE11 p.Ala47Val (p.A47V) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Arg633Ter (p.R633*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg633= (p.R633=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Arg572Ter (p.R572*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Thr481Lys (p.T481K) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
MRE11 p.Trp210Cys (p.W210C) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Pro166Leu (p.P166L) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Asn117Ser (p.N117S) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 )
MRE11 p.Ala47Val (p.A47V) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 ) - Associated Disease
- Ataxia-telangiectasia-like disorder
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.124614511825365
- Year of publication
- NA
Drugs