Variant #0000002563 (NC_000015.10:g.45107450T>A, DUOX2(NM_014080.5):c.1588A>T)

Individual ID 00000573
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.45107450T>A
Published as -
Reference Yock-Ping Chow et al.(2017)
DB-ID DUOX2_000003
dbSNP ID rs180671269
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
DUOX2 NM_014080.5 +/. - c.1588A>T - r.(?) p.(Lys530*) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000624 DNA PCR;PFGE;SEQ DUOX2 2 Nur Aisyah Athirah