Variant #0000000004 (NC_000004.11:g.997815C>A, IDUA(NM_000203.3):c.1743C>A)

Individual ID 00000002
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.997815C>A
Reference -
DB-ID IDUA_000001
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
IDUA NM_000203.3 ./+ 13 c.1743C>A r.(?) p.(Tyr581*) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000002 DNA SEQ-NG IDUA 1 Variome.ir