Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Glu1317Gln (p.E1317Q)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Glu1317Gln (p.E1317Q) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- Hyperplastic Polyp
- Source Database
- DisGeNET
- Description
- Four patients had a germ-line E1317Q missense variant of APC that was not present in controls; one of these individuals had an unusually large number of metaplastic polyps of the colorectum.
- Pubmed
- 9724771
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00380018620912425
- Year of publication
- 1998
Drugs