Individual #00001818

Reference Choi BO1, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW.(2004)
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


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Owner     
0000001818 ? ? GJB1 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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X Unknown ./. g.70443964T>C Choi BO1, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW.(2004) GJB1_000022 - Y Yang GJB1 2 NM_001097642.2:c.407T>C r.(?) p.(Val136Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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