Individual #00001798

Reference Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Subrt I, Seeman P.(2010)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
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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Owner     
0000001798 ? ? GJB1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

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AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
X Unknown ./. g.70443744G>T Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Subrt I, Seeman P.(2010) GJB1_000004 - Y Yang GJB1 2 NM_001097642.2:c.187G>T r.(?) p.(Val63Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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