Individual #00000199

Reference -
Gender F
Geographic origin Iran
Consanguinity yes
Remarks -
Panel size 1
Diseases MPS IVA
Owner name Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000203 DNA SEQ-NG GALNS 1 Variome.ir
0000000273 DNA SEQ-NG IDUA 1 Variome.ir



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
4 Both (homozygous) ./. g.995783C>G - IDUA_000046 Variome.ir IDUA - NM_000203.3:c.806C>G r.(?) p.(Ser269Cys) VUS
16 Both (homozygous) ./. g.88901659G>A - GALNS_000014 Variome.ir GALNS - NM_000512.4:c.860C>T r.(?) p.(Ser287Leu) pathogenic
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