Annotation Detail
Information
- Associated Genes
- PALB2
- Associated Variants
-
PALB2 p.Leu531CysfsTer30 (p.L531Cfs*30)
(
ENST00000566069.6,
ENST00000697379.2,
ENST00000261584.9,
ENST00000697376.1,
ENST00000561514.3,
ENST00000697383.1,
ENST00000568219.5,
ENST00000697374.1,
ENST00000697377.2,
ENST00000713774.1 )
PALB2 p.Leu531CysfsTer30 (p.L531Cfs*30) ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 ) - Associated Disease
- breast carcinoma
- Source Database
- DisGeNET
- Description
- Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.
- Pubmed
- 23941127
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0247012103593076
- Year of publication
- 2013
Drugs