Individual #00054853

ID_report -
Reference PubMed: Jacquemin 1999, Journal: Jacquemin 1999
Remarks 4-generation family, 1 affected, 2 unaffected heterozygous carrier males, 4 heterozygous carrier females
Gender F
Consanguinity yes
Country France
Population -
Age at death >06y (later than 6 years)
VIP 0
Data_av -
Treatment liver transplantation
Panel size 5
Diseases PFIC3
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

cholestasis, intrahepatic, familial, progressive, type 3 (PFIC-3) (PFIC3)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

Protein     

Owner     
0000041516 PFIC; 6y received liver graft - - Isolated (sporadic) - - - - - Johan den Dunnen



Screenings


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Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000054804 DNA;RNA RT-PCR;SEQ - - ABCB4 1 Johan den Dunnen



Variants

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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

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Owner     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
7 Both (homozygous) +/. - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - rs387906527 Germline yes - TaqI- 0 - Johan den Dunnen ABCB4 - - - - - 14 NM_018849.2:c.1712del - r.1712del p.Val571Aspfs*16 - - - - - - - - - - - - - - - - - - -
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