Individual #00002402

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     
0000002402 ? ? CLCN1 1 Y Yang



Variants

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AscendingDNA change (genomic) (hg19)     

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7 Unknown ./. g.143039106T>A Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998) CLCN1_000022 - Y Yang CLCN1 15 NM_000083.2:c.1667T>A r.(?) p.(Ile556Asn) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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