Variant #0000717385 (NC_000001.10:g.247587154C>G, NLRP3(NM_004895.4):c.409C>G)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.247587154C>G
DNA change (hg38) -
Published as NLRP3(NM_001079821.2):c.409C>G (p.(Arg137Gly))
ISCN -
DB-ID NLRP3_000244
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 -?/. - c.409C>G r.(?) p.(Arg137Gly)