Annotation Detail
Information
- Associated Genes
- MSH5
- Associated Variants
-
MSH5 MUTATION
MSH5 MUTATION
MLH1 c.791-1406C>T ( 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 )
MSH5-SAPCD1 p.Pro29Ser (p.P29S), MSH5 p.Pro29Ser (p.P29S) ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 )
PMS2 p.Asn786Ser (p.N786S) ( ENST00000265849.12, ENST00000382321.5, ENST00000642292.1, ENST00000642456.1, ENST00000699752.1, ENST00000699754.1, ENST00000699760.1, ENST00000699761.1, ENST00000699762.1, ENST00000699766.1, ENST00000699768.1, ENST00000699811.1, ENST00000699818.1, ENST00000699821.1, ENST00000699823.1, ENST00000699825.1, ENST00000699827.1, ENST00000699837.1, ENST00000699839.1, ENST00000699840.2, ENST00000699930.2 )
MLH1 c.791-1406C>T ( 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 )
MSH5-SAPCD1 p.Pro29Ser (p.P29S), MSH5 p.Pro29Ser (p.P29S) ( ENST00000375703.7, ENST00000375740.7, ENST00000375750.9, ENST00000375755.8, ENST00000493662.6 )
PMS2 p.Asn786Ser (p.N786S) ( ENST00000265849.12, ENST00000382321.5, ENST00000642292.1, ENST00000642456.1, ENST00000699752.1, ENST00000699754.1, ENST00000699760.1, ENST00000699761.1, ENST00000699762.1, ENST00000699766.1, ENST00000699768.1, ENST00000699811.1, ENST00000699818.1, ENST00000699821.1, ENST00000699823.1, ENST00000699825.1, ENST00000699827.1, ENST00000699837.1, ENST00000699839.1, ENST00000699840.2, ENST00000699930.2 ) - Associated Disease
- azoospermia
- Source Database
- DisGeNET
- Description
- One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia.
- Pubmed
- 22594646
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2012
Drugs