Variant #0000000304 (NC_000004.11:g.995285_995305del, IDUA(NM_000203.3):c.523_543del)

Individual ID 00000089
Chromosome 4
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.995285_995305del
Reference -
DB-ID IDUA_000015
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 ./. - c.523_543del r.(?) p.(Trp175_Asn181del) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000092 DNA SEQ IDUA 2 Variome.ir