Individual #00002425

Reference Warnstedt M1, Sun C, Poser B, Escriva MJ, Tranebjaerg L, Torbergsen T, van Ghelue M, Fahlke C.(2002)
Ethnic origin -
Remarks -
Panel size 1
Diseases MC
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     
0000002425 ? ? CLCN1 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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7 Unknown ./. g.143028336G>A Warnstedt M1, Sun C, Poser B, Escriva MJ, Tranebjaerg L, Torbergsen T, van Ghelue M, Fahlke C.(2002) CLCN1_000045 - Y Yang CLCN1 9 NM_000083.2:c.991G>A r.(?) p.(Ala331Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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