Individual #00002383

Reference Koch MC1, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ.(1992)
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     
0000002383 ? ? CLCN1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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AscendingDNA change (genomic) (hg19)     

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7 Unknown ./. g.143029583T>G Koch MC1, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ.(1992) CLCN1_000003 - Y Yang CLCN1 11 NM_000083.2:c.1238T>G r.(?) p.(Phe413Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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