Individual #00000847

Reference Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002)
Ethnic origin -
Remarks -
Panel size 1
Diseases CD
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     
0000000847 ? ? ASPA 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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17 Unknown ./. g.3392552C>T Zeng BJ1, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.(2002) ASPA_000035 - Y Yang ASPA 4 NM_000049.2:c.550C>T r.(?) p.(Gln184*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation
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