Annotation Detail
Information
- Associated Genes
- NLRP3
- Associated Variants
-
NLRP3 p.Ala439Val (p.A439V)
(
ENST00000348069.7,
ENST00000391827.3,
ENST00000391828.8,
ENST00000366496.7,
ENST00000336119.8,
ENST00000474792.2,
ENST00000643234.2,
ENST00000697350.1,
ENST00000697408.2 )
NLRP3 p.Ala439Val (p.A439V) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 ) - Associated Disease
- familial cold autoinflammatory syndrome 1 Keratitis fugax hereditaria Familial amyloid nephropathy with urticaria AND deafness Hearing loss, autosomal dominant 34, with or without inflammation Chronic infantile neurological, cutaneous and articular syndrome
- Source Database
- ClinVar
- Description
- NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions
- ClinVar Allele ID
- 19409
- ClinVar RefSeq Alternation Syntax
- NM_004895.5:c.1322C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127462.3:c.1316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001079821.3:c.1316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001243133.2:c.1316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001127461.3:c.1316C>T
- ClinVar RefSeq Alternation Syntax
- NM_183395.3:c.1316C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002476928
- ClinVar Disease
- Chronic infantile neurological, cutaneous and articular syndrome
- ClinVar Disease
- Familial amyloid nephropathy with urticaria AND deafness
- ClinVar Disease
- Familial cold autoinflammatory syndrome 1
- ClinVar Disease
- Keratitis fugax hereditaria
- ClinVar Disease
- Hearing loss, autosomal dominant 34, with or without inflammation
- Observed Origin Sample
- unknown
Drugs