Variant #0000000422 (NC_000004.11:g.998080C>T, IDUA(NM_000203.3):c.1861C>T)

Individual ID 00000198
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.998080C>T
Reference -
DB-ID IDUA_000034
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
IDUA NM_000203.3 ./. - c.1861C>T r.(?) p.(Arg621*) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000202 DNA SEQ-NG IDUA 1 Variome.ir