Individual #00001220

Reference Petersen RB1, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P.(1997)
Ethnic origin -
Remarks -
Panel size 1
Diseases FAN
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001220 ? ? TTR 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.29172938T>G Petersen RB1, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P.(1997) TTR_000016 - Y Yang TTR 2 NM_000371.3:c.149T>G r.(?) p.(Val50Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
Legend   How to query