Individual #00181082

ID_report -
Reference -
Remarks -
Gender F
Consanguinity no
Country - (not applicable)
Population -
Age at death -
VIP 0
Data_av -
Treatment endoscopic biliary sphincterotomy, ursodeoxycholic acid treatment
Panel size 1
Diseases ICP-3
Owner name Minh Tuan Huynh
Database submission license No license selected
Created by Minh Tuan Huynh


Phenotypes

cholestasis, intrahepatic, of pregnancy, type 3 (ICP-3) (ICP-3)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

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Age/Examination     

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Protein     

Owner     
0000143334 ICP, endoscopic sphincterotomy, disturbance of liver function, intense pruritus, itching, ursodeoxycholic acid treatment Intrahepatic cholestasis of pregnancy Intrahepatic cholestasis of pregnancy Familial, autosomal dominant - - 34y - - Minh Tuan Huynh



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000182031 RNA SEQ-NG-I Blood lymphocytes - ABCB4 1 Minh Tuan Huynh



Variants

1 entry on 1 page. Showing entry 1.
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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     

ClinVar ID     

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VIP     

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Owner     

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IDbase Accession Number     

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Exon     

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P-domain     

Exon_old     

DNA/Legacy     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
7 Parent #1 +?/. - likely pathogenic g.87072711A>G g.87443395A>G - - ABCB4_000031 - - - - Germline yes - - 0 - Minh Tuan Huynh ABCB4 - - - - - - NM_018849.2:c.1280T>C - r.(?) p.(Leu427Pro) - - - - - - - - - - - - - - - - - - - -
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