Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
BRCA1 p.Tyr978Ter (p.Y978*)
(
ENST00000634433.2,
ENST00000591849.5,
ENST00000713676.1,
ENST00000644379.2,
ENST00000586385.5,
ENST00000618469.2,
ENST00000470026.6,
ENST00000491747.6,
ENST00000700182.1,
ENST00000476777.6,
ENST00000489037.2,
ENST00000473961.6,
ENST00000468300.5,
ENST00000644555.2,
ENST00000477152.6,
ENST00000484087.6,
ENST00000494123.6,
ENST00000478531.6,
ENST00000493795.5,
ENST00000591534.5,
ENST00000471181.7,
ENST00000497488.2,
ENST00000357654.9,
ENST00000461574.2,
ENST00000352993.7,
ENST00000493919.6 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH6 p.Tyr977Ter (p.Y977*) ( ENST00000234420.11, ENST00000411819.2, ENST00000420813.6, ENST00000455383.6, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2, ENST00000405808.5 )
BRCA1 p.Tyr978Ter (p.Y978*) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 )
MSH6 p.Tyr977Ter (p.Y977*) ( ENST00000234420.11, ENST00000411819.2, ENST00000420813.6, ENST00000455383.6, ENST00000540021.6, ENST00000652107.1, ENST00000673637.1, ENST00000700000.1, ENST00000700002.1, ENST00000700004.2, ENST00000405808.5 ) - Associated Disease
- endometrial carcinoma
- Source Database
- DisGeNET
- Description
- Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984_3987dup).
- Pubmed
- 20850175
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0306405939366718
- Year of publication
- 2010
Drugs