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
- adenoma
- Source Database
- DisGeNET
- Description
- Recently, however, a missense variant of APC (I1307K) was described that confers an increased risk of colorectal tumors, including multiple adenomas, in Ashkenazim.
- Pubmed
- 9724771
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.190731621915964
- Year of publication
- 1998
Drugs