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     
+/. 14 c.1637C>A r.(?) p.(Ala546Asp) - pathogenic g.87069077G>T g.87439761G>T - - ABCB4_000004 expression cloning of variant introduced at equivalent position in ABCB1 (MDR1) shows disrupted protein trafficking with subsequent lack of functional protein at cell surface (FACS and Western blot) PubMed: Dixon 2000, Journal: Dixon 2000, OMIM:var0004 - rs121918441 Germline - 1/8 cases SexAI- 0 - Johan den Dunnen
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