Individual #00000180

Reference -
Gender F
Geographic origin Iran
Consanguinity no
Remarks -
Panel size 1
Diseases MPS IIIC
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     
0000000185 DNA SEQ-NG HGSNAT 1 Variome.ir



Variants

1 entry on 1 page. Showing entry 1.
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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     
8 Both (homozygous) ./. g.43054576dup - HGSNAT_000005 Variome.ir HGSNAT - NM_152419.2:c.1772dup r.(?) p.(Asn591Lysfs*38) likely pathogenic
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