Variant #0000506789 (NC_000001.10:g.247587590A>C, NLRP3(NM_004895.4):c.845A>C)

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.247587590A>C
DNA change (hg38) g.247424288A>C
Published as NLRP3(NM_001079821.2):c.845A>C (p.(Asp282Ala))
ISCN -
DB-ID NLRP3_000187
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.845A>C r.(?) p.(Asp282Ala)