Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 p.Ile219Leu (p.I219L)
(
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.Ile219Val (p.I219V) ( ENST00000458205.6, ENST00000539477.6, ENST00000456676.7, ENST00000455445.6, ENST00000485889.2, ENST00000536378.5, ENST00000231790.8, ENST00000435176.5, ENST00000441265.6, ENST00000492474.6, ENST00000466900.6, ENST00000674019.1, ENST00000713802.1, ENST00000450420.6, ENST00000616768.6, ENST00000673673.2, ENST00000673715.1, ENST00000673899.1, ENST00000673990.2 )
MLH1 p.Val647Met (p.V647M) ( 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.Val716Met (p.V716M) ( 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.Val716Leu (p.V716L) ( 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.Ile219Leu (p.I219L) ( 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.Ile219Val (p.I219V) ( 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.Val647Met (p.V647M) ( 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.Val716Met (p.V716M) ( 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.Val716Leu (p.V716L) ( 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 pancreatitis
- Source Database
- DisGeNET
- Description
- Second, the samples from Finnish hereditary prostate cancer (HPC) families were used for the screening of MLH1 mutations which produced twelve MLH1 sequence variants including two missense mutations, I219V, as in the PRCA-colon cancer patient, and V647M.
- Pubmed
- 16963262
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2006
Drugs