Individual #00000114

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     
0000000117 DNA SEQ-NG GALNS 2 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     
16 Parent #2 ./. g.88893176G>A - GALNS_000035 Variome.ir GALNS - NM_000512.4:c.1073C>T r.(?) p.(Pro358Leu) likely pathogenic
16 Parent #1 ./. g.88908340delT - GALNS_000034 Variome.ir GALNS - NM_000512.4:c.284delA r.(?) p.(Asn95Metfs*34) pathogenic
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