Variant #0000000240 (NC_000004.11:g.995285T>C, IDUA(NM_000203.3):c.523T>C)

Individual ID 00000031
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.995285T>C
Reference -
DB-ID IDUA_000005 See all 2 reported entries
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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.523T>C r.(?) p.(Trp175Arg) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000033 DNA SEQ-NG IDUA 1 Variome.ir