Individual #00002151

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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002151 ? ? HPRT1 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
X Unknown ./. g.133624224delT Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990) HPRT1_000091 - Y Yang HPRT1 5 NM_000194.2:c.391delT r.(?) p.(Leu131*) VariO:0141 DNA deletion VariO:0015 protein truncation
Legend   How to query