All variants in the ABCB11 gene

Information The variants shown are described using the NM_003742.2 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.500C>T r.(?) p.(Ala167Val) - VUS g.169851970G>A g.168995460G>A ABCB11(NM_003742.2):c.500C>T (p.A167V) - ABCB11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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