Individual #00001814

Reference Janssen EA1, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA.(1997)
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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Owner     
0000001814 ? ? GJB1 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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Variant/VariO/protein     
X Unknown ./. g.70443811C>G Janssen EA1, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA.(1997) GJB1_000019 - Y Yang GJB1 2 NM_001097642.2:c.254C>G r.(?) p.(Ser85Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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