Individual #00002190

Reference Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)
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     
0000002190 ? ? HPRT1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

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Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.133607387A>T Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000142 - Y Yang HPRT1 1i NM_000194.2:c.28-2A>T r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion -
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