Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 p.Val198Met (p.V198M)
(
ENST00000348069.7,
ENST00000643234.2,
ENST00000366496.7,
ENST00000336119.8,
ENST00000697350.1,
ENST00000391827.3,
ENST00000474792.2,
ENST00000391828.8,
ENST00000697408.2 )
NLRP3 p.Val198Leu (p.V198L) ( ENST00000336119.8, ENST00000697350.1, ENST00000366496.7, ENST00000348069.7, ENST00000643234.2, ENST00000697408.2, ENST00000391827.3, ENST00000474792.2, ENST00000391828.8 )
NLRP3 p.Val198Met (p.V198M) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Val198Leu (p.V198L) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- Familial cold urticaria
- Source Database
- DisGeNET
- Description
- This resulted in the identification of four distinct mutations in a gene that segregated with the disorder in three families with FCAS and one family with MWS.
- Pubmed
- 11687797
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.566786046802008
- Year of publication
- 2001
Drugs