Individual #00000621

Reference Hiroshi Shiraku et al.(2018)
Gender M
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases EPVB6D
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

Early Onset Epilepsy, Vitamin B6-dependent (EPVB6D)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000222 Seizure onset: <24h, Seizure type: GTC, myoclonic, Delay of motor development: right hemiparalysis and dystonic posture, Delay of speech development, profound Intellectual disability, Brain MRI: Broad gyri and shallow sulci, microcephaly with underdevelopment of white matter; periventricular cyst - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000688 DNA PCR;SEQ PLPBP 1 Nur Aisyah Athirah



Variants

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

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     
8 Unknown +/. g.8873G>A - Hiroshi Shiraku et al.(2018) PLPBP_000001 rs903127278 - - Nur Aisyah Athirah PLPBP - NM_001349346.1:c.119G>A - r.(?) p.(Glu67Lys) - -
Legend   How to query