Individual #00000071

Reference -
Gender M
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     
0000000074 DNA SEQ GALNS 1 Variome.ir



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
16 Both (homozygous) ./. g.88902211del - GALNS_000023 Variome.ir GALNS - NM_000512.4:c.680del, XM_005256302.1:c.698del r.(?) p.(Phe227Serfs*92), p.(Phe233Serfs*92) pathogenic
Legend   How to query