Individual #00001254

Reference Jacobson DR1, McFarlin DE, Kane I, Buxbaum JN.(1992)
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     

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Genes screened     

Variants found     

Owner     
0000001254 ? ? TTR 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

RNA change     

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Variant/VariO/protein     
18 Unknown ./. g.29175106T>C Jacobson DR1, McFarlin DE, Kane I, Buxbaum JN.(1992) TTR_000050 - Y Yang TTR 3 NM_000371.3:c.224T>C r.(?) p.(Leu75Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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