All variants in the ABCB4 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 23 c.2869C>T r.2869c>u p.Arg957* - pathogenic g.87041264G>A g.87411948G>A codon 957 C>T - ABCB4_000002 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs121918440 Germline yes - - 0 - Johan den Dunnen
+?/. - c.2869C>T r.(?) p.(Arg957*) - likely pathogenic (recessive) g.87041264G>A - - - ABCB4_000002 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
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