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     
+/. - c.3580C>T r.(?) p.(Arg1194Ter) - pathogenic g.87032525G>A g.87403209G>A ABCB4(NM_000443.3):c.3559C>T (p.R1187*) - ABCB4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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