Individual #00001825

Reference Akimoto C1, Morita M, Yamamoto M, Nakano I.(2010)
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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001825 ? ? 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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DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.70443834_70443835delAT Akimoto C1, Morita M, Yamamoto M, Nakano I.(2010) GJB1_000030 - Y Yang GJB1 2 NM_001097642.2:c.277_278delAT r.(?) p.(Met93Alafs*16) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
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