Individual #00001817

Reference Liang GS1, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH.(2005)
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     
0000001817 ? ? 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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X Unknown ./. g.70444261T>G Liang GS1, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH.(2005) GJB1_000021 - Y Yang GJB1 2 NM_001097642.2:c.704T>G r.(?) p.(Phe235Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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