Individual #00000518

Reference Sanae Numata et al.(2015)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases ARCI
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Phenotypes

autosomal recessive congenital ichthyosis (ARCI)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000173 diagnosed as Harlequin ichthyosis - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000566 DNA PCR ABCA12 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.215000799C>T - Sanae Numata et al.(2015) ABCA12_000003 rs1064797003 1/17 - Nur Aisyah Athirah ABCA12 - NM_173076.2:c.3085G>A - r.(?) p.(Glu1029Lys) - -
2 Unknown +/. g.215045850G>A - Sanae Numata et al.(2015) ABCA12_000002 rs11891778 1/17 - Nur Aisyah Athirah ABCA12 - NM_173076.2:c.859C>T - r.(?) p.(Arg287*) - Pathogenic
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