Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 p.Asp303Asn (p.D303N)
(
ENST00000336119.8,
ENST00000474792.2,
ENST00000391827.3,
ENST00000348069.7,
ENST00000366496.7,
ENST00000391828.8,
ENST00000643234.2,
ENST00000697350.1,
ENST00000697408.2 )
NLRP3 p.Asp303His (p.D303H) ( ENST00000474792.2, ENST00000391827.3, ENST00000391828.8, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303Asn (p.D303N) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
NLRP3 p.Asp303His (p.D303H) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
- Source Database
- DisGeNET
- Description
- Our findings identify the novel p.D303H NLRP3 variant in a Spanish patient with CINCA/NOMID as a new disease-causing mutation, which was detected as a somatic, nongermline mutation in hematopoietic and nonhematopoietic cell lineages.
- Pubmed
- 20131270
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.450043349266971
- Year of publication
- 2010
Drugs