Individual #00002406

Reference Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)
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     
0000002406 ? ? 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.143027865G>A Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998) CLCN1_000026 - Y Yang CLCN1 8 NM_000083.2:c.854G>A r.(?) p.(Gly285Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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