Individual #00000196

Reference -
Gender M
Geographic origin Iran
Consanguinity yes
Remarks -
Panel size 1
Diseases GSL
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     
0000000200 DNA SEQ-NG CTSA 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     
20 Parent #1 ./. g.44523720G>A - CTSA_000001 Variome.ir CTSA - NM_000308.2:c.1090G>A, NM_001167594.1:c.1039G>A r.(?) p.(Val364Met), p.(Val347Met) likely pathogenic
20 Parent #2 ./. g.44526731G>A - CTSA_000002 Variome.ir CTSA - NM_000308.2:c.1396G>A, NM_001167594.1:c.1345G>A r.(?) p.(Ala466Thr), p.(Ala449Thr) VUS
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