Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Pro648Ser (p.P648S)
(
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.Pro648Ser (p.P648S) ( 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 ) - Associated Disease
- Hereditary Nonpolyposis Colorectal Cancer
- Source Database
- DisGeNET
- Description
- HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
- Pubmed
- 15139004
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.329468127914408
- Year of publication
- 2004
Drugs