Variant #0000638930 (NC_000001.10:g.247587670G>A, NLRP3(NM_004895.4):c.925G>A)

Individual ID 00282038
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.247587670G>A
DNA change (hg38) g.247424368G>A
Published as -
ISCN -
DB-ID NLRP3_000051 See all 2 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Saito 2008, PubMed: Tanaka 2011, PubMed: Tanaka 2011, PubMed: Yokoyama 2015
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 +/+ 4 c.925G>A r.(?) p.(Gly309Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283188 DNA ? - - NLRP3 1 Global Variome, with Curator vacancy