Individual #00002446

Reference Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)
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


AscendingScreening ID     

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Owner     
0000002446 ? ? CLCN1 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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Variant/VariO/protein     
7 Unknown ./. g.143036700G>A Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009) CLCN1_000066 - Y Yang CLCN1 14 NM_000083.2:c.1568G>A r.(?) p.(Gly523Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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