Annotation Detail
Information
- Associated Genes
- APC
- Associated Variants
-
APC p.Ile1307Lys (p.I1307K)
(
ENST00000257430.9,
ENST00000504915.3,
ENST00000507379.6,
ENST00000508376.6,
ENST00000509732.6,
ENST00000512211.7,
ENST00000713638.1,
ENST00000713639.1 )
APC p.Ile1307Lys (p.I1307K) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 ) - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- The I1307K mutation of the APC gene is found in approximately 6% of the Ashkenazi Jewish population and is associated with elevated risk of colorectal cancer.
- Pubmed
- 10938175
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0757322823104046
- Year of publication
- 2000
Drugs