Individual #00005876

Reference Huang L et al. (2012)
Ethnic origin -
Remarks -
Panel size 1
Diseases SCA
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     
0000005893 ? ? ITPR1 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     
3 Unknown ./. g.4747877G>A Huang L et al. (2012) ITPR1_000001 - XY Liu ITPR1 37 NM_001099952.2:c.4657G>A r.(?) p.(Val1553Met) - -
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