Individual #00002070

Reference Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992)
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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Genes screened     

Variants found     

Owner     
0000002070 ? ? HPRT1 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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DNA change (cDNA)     

RNA change     

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Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.133609266G>C Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992) HPRT1_000027 - Y Yang HPRT1 3 NM_000194.2:c.190G>C r.(?) p.(Ala64Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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