Individual #00000665

Reference Hock Lock Ngu et al.(2010)
Gender M
Geographic origin Malaysia
Ethnic origin Malay
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 2021-06-01 16:19:48 +08:00 (CST)
Date last edited 2021-08-01 13:01:27 +08:00 (CST)


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000245 birth weight: 2.5kg. Laboratory tests revealed conjugated hyperbilirubinemia. Total blood galactose was elevated seven times from normal but normalized at the age of 3 month. - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000732 DNA ? SLC25A13 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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     
7 Unknown +/. g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT IVS16ins3kb Hock Lock Ngu et al.(2010) SLC25A13_000001 - - - Nur Aisyah Athirah SLC25A13 16i NM_001160210.1:c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA - r.(=) p.(=) - Pathogenic
7 Unknown +/. g.96189373_96189376delATAC - Hock Lock Ngu et al.(2010) SLC25A13_000002 - - - Nur Aisyah Athirah SLC25A13 - NM_001160210.1:c.851_854delGTAT - r.(?) p.(Met285Profs*2) - -
Legend   How to query