Individual #00001816

Reference Hanemann CO1, Bergmann C, Senderek J, Zerres K, Sperfeld AD.(2003)
Ethnic origin -
Remarks -
Panel size 1
Diseases HMSN
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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Genes screened     

Variants found     

Owner     
0000001816 ? ? GJB1 1 Y Yang



Variants

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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     
X Unknown ./. g.70443861_70443863delGAG Hanemann CO1, Bergmann C, Senderek J, Zerres K, Sperfeld AD.(2003) GJB1_000029 - Y Yang GJB1 2 NM_001097642.2:c.304_306delGAG r.(?) p.(Glu102del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion
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