Individual #00002471

Reference Richardson RC1, Tarleton JC, Bird TD, Gospe SM Jr.(2014)
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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Technique     

Genes screened     

Variants found     

Owner     
0000002471 ? ? CLCN1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
7 Unknown ./. g.143048771C>T Richardson RC1, Tarleton JC, Bird TD, Gospe SM Jr.(2014) CLCN1_000013 - Y Yang CLCN1 23 NM_000083.2:c.2680C>T r.(?) p.(Arg894*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
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