Individual #00001259

Reference Booth DR1, Tan SY, Hawkins PN, Pepys MB, Frustaci A.(1995)
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     
0000001259 ? ? TTR 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Exon     

DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
18 Unknown ./. g.29175118C>A Booth DR1, Tan SY, Hawkins PN, Pepys MB, Frustaci A.(1995) TTR_000055 - Y Yang TTR 3 NM_000371.3:c.236C>A r.(?) p.(Thr79Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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