Variant #0000506774 (NC_000001.10:g.247582310G>A, NLRP3(NM_004895.4):c.214G>A)

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.247582310G>A
DNA change (hg38) g.247419008G>A
Published as NLRP3(NM_001243133.1):c.208G>A (p.V70M), NLRP3(NM_004895.4):c.214G>A (p.V72M)
ISCN -
DB-ID NLRP3_000177 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) 0.00074 View details
Owner VKGL-NL_Groningen
Database submission license No license selected
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 -?/. - c.214G>A r.(?) p.(Val72Met)