Individual #00000599

Reference H B Chew et al.(2020)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases ANEC
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-04-28 11:35:14 +08:00 (CST)
Date last edited 2021-08-01 14:14:52 +08:00 (CST)


Phenotypes

Acute Necrotizing Encephalopathy of Childhood (ANEC)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000211 Hypertonia, hyper-reflexia and extensor Babinski response, Impaired vision & color vision, Right homonymous hemianopia - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000665 DNA SEQ RANBP2 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     
2 Unknown +/. g.108751993C>T - H B Chew et al.(2020) RANBP2_000001 rs121434502 - - Nur Aisyah Athirah RANBP2 - NM_006267.5:c.1754C>T - r.(?) p.(Thr585Met) - Conflicting interpretations of pathogenicity
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