Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Thr117Arg (p.T117R)
(
ENST00000231790.8,
ENST00000435176.5,
ENST00000441265.6,
ENST00000450420.6,
ENST00000455445.6,
ENST00000456676.7,
ENST00000458205.6,
ENST00000466900.6,
ENST00000485889.2,
ENST00000492474.6,
ENST00000536378.5,
ENST00000539477.6,
ENST00000616768.6,
ENST00000673673.2,
ENST00000673715.1,
ENST00000673899.1,
ENST00000673990.2,
ENST00000674019.1,
ENST00000713802.1 )
MLH1 p.Thr117Met (p.T117M) ( ENST00000455445.6, ENST00000485889.2, ENST00000492474.6, ENST00000539477.6, ENST00000536378.5, ENST00000231790.8, ENST00000435176.5, ENST00000466900.6, ENST00000441265.6, ENST00000456676.7, ENST00000458205.6, ENST00000450420.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Trp714Ter (p.W714*) ( ENST00000673990.2, ENST00000674019.1, ENST00000713802.1, ENST00000231790.8, ENST00000435176.5, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673899.1 )
MLH1 p.Thr117Arg (p.T117R) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Thr117Met (p.T117M) ( ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Trp714Ter (p.W714*) ( ENST00000231790.8, ENST00000435176.5, ENST00000450420.6, ENST00000455445.6, ENST00000456676.7, ENST00000458205.6, ENST00000466900.6, ENST00000485889.2, ENST00000492474.6, ENST00000536378.5, ENST00000539477.6, ENST00000616768.6, ENST00000673673.2, ENST00000673899.1, ENST00000673990.2, ENST00000674019.1, ENST00000713802.1 )
MLH1 p.Ile719GlnfsTer65 (p.I719Qfs*65)
MLH1 p.His718_Ile719insMetCysSerThr (p.H718_I719insMCST)
MLH1 p.Ile719GlnfsTer65 (p.I719Qfs*65)
MLH1 p.His718_Ile719insMetCysSerThr (p.H718_I719insMCST) - Associated Disease
- Colorectal cancer, hereditary nonpolyposis, type 1
- 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