Variant #0000647657 (NC_000001.10:g.247581542T>G, NLRP3(NM_004895.4):c.-555T>G)

Individual ID 00289800
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.247581542T>G
DNA change (hg38) g.247418240T>G
Published as -
ISCN -
DB-ID NLRP3_000234 See all 2 reported entries
Variant remarks 247 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs72771992
Origin Germline
Segregation -
Frequency 247/2793 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 -/. - c.-555T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290968 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq