Individual #00000790

Reference Bee C Chen et al.(2014)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases LNS
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Lesch–Nyhan Syndrome (LNS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000308 Medullary nephrocalcinosis were noted at 2 years of age. She failed to thrive, was globally delayed and had significant dystonia by 3 years 6 months of age - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000884 DNA SEQ HPRT1 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
X Unknown +/. g.44885G>A - Bee C Chen et al.(2014) HPRT1_000001 rs1085307889 - - Nur Aisyah Athirah HPRT1 - NM_000194.3:c.610-1G>A - r.spl? p.? - -
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