Individual #00004347

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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Variants found     

Owner     
0000004347 ? ? 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.68704218G>C Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) IGHMBP2_000027 - Y Yang IGHMBP2 13 NM_002180.2:c.2270G>C r.(?) p.(Arg757Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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