Individual #00004346

Reference Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013)
Ethnic origin Chinese
Remarks -
Panel size 1
Diseases SMA
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     
0000004346 ? ? IGHMBP2 1 Y Yang



Variants

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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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11 Unknown ./. g.68704028C>T Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) IGHMBP2_000026 - Y Yang IGHMBP2 13 NM_002180.2:c.2080C>T r.(?) p.(Arg694Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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