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
Malignant neoplasm of breast
Source Database
DisGeNET
Description
The APC gene I1307K variant is rare in Norwegian patients with familial and sporadic colorectal or breast cancer.
Pubmed
9679946
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0918674975014126
Year of publication
1998
Drugs