Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 c.*230G>C
(
ENST00000366496.7,
ENST00000348069.7,
ENST00000697350.1,
ENST00000336119.8,
ENST00000391828.8,
ENST00000391827.3 )
NLRP3 c.*230G>C ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000697350.1 ) - Associated Disease
- Familial amyloid nephropathy with urticaria AND deafness
- Source Database
- ClinVar
- Description
- NM_001243133.2(NLRP3):c.*230G>C AND Familial amyloid nephropathy with urticaria AND deafness
- ClinVar Allele ID
- 280213
- ClinVar RefSeq Alternation Syntax
- NM_001127461.3:c.*230G>C
- ClinVar RefSeq Alternation Syntax
- NM_001127462.3:c.*230G>C
- ClinVar RefSeq Alternation Syntax
- NM_183395.3:c.*230G>C
- ClinVar RefSeq Alternation Syntax
- NM_001079821.3:c.*230G>C
- ClinVar RefSeq Alternation Syntax
- NM_001243133.2:c.*230G>C
- ClinVar RefSeq Alternation Syntax
- NM_004895.5:c.*230G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000339908
- ClinVar Disease
- Familial amyloid nephropathy with urticaria AND deafness
- Observed Origin Sample
- germline
Drugs