Individual #00002124

Reference Yamada Y1, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasawara N.(1996)
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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Variants found     

Owner     
0000002124 ? ? HPRT1 1 Y Yang



Variants

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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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Variant/VariO/protein     
X Unknown ./. g.133609270T>C Yamada Y1, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasawara N.(1996) HPRT1_000044 - Y Yang HPRT1 3 NM_000194.2:c.194T>C r.(?) p.(Leu65Pro) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
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