All variants in the ABCB11 gene

Information The variants shown are described using the NM_003742.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.890A>G r.(?) p.(Glu297Gly) - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.890A>G r.(?) p.(Glu297Gly) - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.890A>G r.(?) p.(Glu297Gly) - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.890A>G r.(?) p.(Glu297Gly) - pathogenic g.169847329T>C g.168990819T>C ABCB11(NM_003742.2):c.890A>G (p.E297G), ABCB11(NM_003742.4):c.890A>G (p.E297G) - ABCB11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.890A>G r.(?) p.(Asn510Ser) - likely pathogenic (recessive) g.169847329T>C - - - ABCB11_000030 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
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