Individual #00002175

Reference Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)
Ethnic origin -
Remarks -
Panel size 1
Diseases LNS
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     
0000002175 ? ? HPRT1 1 Y Yang



Variants

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Chr     

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AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
X Unknown ./. g.133609386_133609387insG Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997) HPRT1_000064 - Y Yang HPRT1 3 NM_000194.2:c.310_311insG r.(?) p.(Ser104Argfs*4) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel
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