Variant #0000300213 (NC_000001.10:g.247587665T>C, NLRP3(NM_004895.4):c.920T>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.247587665T>C
DNA change (hg38) g.247424363T>C
Published as NLRP3(NM_001243133.2):c.914T>C (p.L305P)
ISCN -
DB-ID NLRP3_000048 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 +/. - c.920T>C r.(?) p.(Leu307Pro)