All variants in the ABCB4 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+?/. - c.1529A>G r.(?) p.(Arg957*) - likely pathogenic (recessive) g.87069546T>C - - - ABCB4_000056 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query