Individual #00005496

Reference Maetani Y et al. (2016)
Ethnic origin -
Remarks -
Panel size 1
Diseases FAN
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     
0000005507 ? ? TTR 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     
18 Unknown ./. g.29172937G>A Maetani Y et al. (2016) TTR_000013 - XY Liu TTR 2 NM_000371.3:c.148G>A r.(?) p.(Val50Met) - -
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