All variants in the ABCB4 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.959C>T r.(?) p.(Ser320Phe) - pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.3):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.959C>T r.(?) p.(Ser320Phe) - likely pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.3):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.959C>T r.(?) p.(Ser320Phe) - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.959C>T r.(?) p.(Ser320Phe) - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - Johan den Dunnen
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