Variant #0000638900 (NC_000001.10:g.247587093C>T, NLRP3(NM_004895.4):c.404-56C>T)

Individual ID 00282008
Chromosome 1
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.247587093C>T
DNA change (hg38) g.247423791C>T
Published as -
ISCN -
DB-ID NLRP3_000009 See all 2 reported entries
Variant remarks -
Reference MORL Deafness Variation Database
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NLRP3 NM_004895.4 ?/? 3i c.404-56C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283158 DNA ? - - NLRP3 1 Global Variome, with Curator vacancy