Individual #00000709

Reference Hui Bein Chew et al.(2010)
Gender F
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 2021-06-27 09:44:55 +08:00 (CST)
Date last edited 2021-08-01 13:11:07 +08:00 (CST)


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000254 Birth weight: 2.1kg, cholestatic jaundice at 20 weeks, Failure to thrive, Hepatomegaly, Splenomegaly. - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000782 DNA PCR SLC25A13 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     
7 Unknown +/. g.205398_205399insTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCCGATTTCTCCATTTTTTT IVS16ins3kb Hui Bein Chew et al.(2010) SLC25A13_000001 - - - Nur Aisyah Athirah SLC25A13 16i NM_014251.2:c.*95915792_*95915793insAAAAAAATGGAGAAATCGGGGGGCGGGGCTGCCAAGGGAGGAGGAAGATGGCGGCGGGGGCGAGGTGAGGTGTTGGCAGTGGAAAGGGGTTCGGGCTCGGGGGGCGGGGGGACNNNNNNNNNNAAAAAAAAAA - r.(=) p.(=) - Pathogenic
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