Individual #00002170

Reference Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)
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     
0000002170 ? ? HPRT1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.133607461_133607462insGG Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000) HPRT1_000102 - Y Yang HPRT1 2 NM_000194.2:c.100_101insGG r.(?) p.(Val35Glyfs*8) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel
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