Individual #00002469

Reference Nam TS1, Jung HJ, Choi SY, Kim YO, Kim MK, Cho KH.(2012)
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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Variants found     

Owner     
0000002469 ? ? CLCN1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
7 Unknown ./. g.143039118T>C Nam TS1, Jung HJ, Choi SY, Kim YO, Kim MK, Cho KH.(2012) CLCN1_000071 - Y Yang CLCN1 15 NM_000083.2:c.1679T>C r.(?) p.(Met560Thr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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