Variant #0000605603 (NC_000001.10:g.247587589G>C, NLRP3(NM_004895.4):c.844G>C)

Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.247587589G>C
DNA change (hg38) g.247424287G>C
Published as NLRP3(NM_001079821.2):c.844G>C (p.(Asp282His)), NLRP3(NM_001243133.1):c.838G>C (p.D280H)
ISCN -
DB-ID NLRP3_000186 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 ?/. - c.844G>C r.(?) p.(Asp282His)