Individual #00000711

Reference Hui Bein Chew et al.(2010)
Gender M
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases NICCD
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 2021-06-27 09:51:11 +08:00 (CST)
Date last edited 2021-08-01 13:11:33 +08:00 (CST)


Phenotypes

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000256 Birth weight: 2.6kg, prolonged cholestatic jaundice at 8 weeks, Hepatomegaly - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000784 DNA PCR SLC25A13 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     
7 Unknown +/. g.96121929_96121951dup - Hui Bein Chew et al.(2010) SLC25A13_000004 rs80338725 - - Nur Aisyah Athirah SLC25A13 16 NM_014251.2:c.1638_1660dup 1638ins23 r.(?) p.(Ala554Glyfs*17) - Pathogenic​
7 Unknown +/. g.96189372_96189375del - Hui Bein Chew et al.(2010) SLC25A13_000003 rs80338720 - - Nur Aisyah Athirah SLC25A13 9 NM_014251.2:c.852_855del 85del4 r.(?) p.(Met285Profs*2) - Pathogenic
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