Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 p.Arg260= (p.R260=)
(
ENST00000391827.3,
ENST00000391828.8,
ENST00000366496.7,
ENST00000348069.7,
ENST00000474792.2,
ENST00000336119.8,
ENST00000643234.2,
ENST00000697350.1,
ENST00000697408.2 )
NLRP3 p.Arg260= (p.R260=) ( ENST00000697408.2, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1 ) - Associated Disease
- Keratitis fugax hereditaria
- Source Database
- ClinVar
- Description
- NM_001243133.2(NLRP3):c.780A>G (p.Arg260=) AND Keratitis fugax hereditaria
- ClinVar Allele ID
- 389399
- ClinVar RefSeq Alternation Syntax
- NM_183395.3:c.780A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127461.3:c.780A>G
- ClinVar RefSeq Alternation Syntax
- NM_001243133.2:c.780A>G
- ClinVar RefSeq Alternation Syntax
- NM_001127462.3:c.780A>G
- ClinVar RefSeq Alternation Syntax
- NM_004895.5:c.786A>G
- ClinVar RefSeq Alternation Syntax
- NM_001079821.3:c.780A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001782926
- ClinVar Disease
- Keratitis fugax hereditaria
- Observed Origin Sample
- germline
Drugs