Individual #00005750

Reference Bourne SC et al. (2017)
Ethnic origin -
Remarks -
Panel size 1
Diseases OPA
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005766 ? ? OPA3 1 XY Liu



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
19 Unknown ./. g.46057077G>C Bourne SC et al. (2017) OPA3_000001 - XY Liu OPA3 2 NM_025136.3:c.235C>G r.(?) p.(Leu79Val) - -
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