All variants in the ABCB4 gene

Information The variants shown are described using the NM_018849.2 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 6 c.394_400del r.394_400del p.Tyr132Lysfs*29 - pathogenic g.87082397_87082403del g.87453081_87453087del codon 132 TATATACdel - ABCB4_000001 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs387906526 Germline yes - - 0 - Johan den Dunnen
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