All variants in the ABCB4 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1712del r.1712del p.Val571Aspfs*16 - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - rs387906527 Germline yes - TaqI- 0 - Johan den Dunnen
+/. 14 c.1712del r.(?) p.(Val571Aspfs*16) - pathogenic g.87069002del g.87439686del 1712delT - ABCB4_000003 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999, OMIM:var0003 - - Germline yes - TaqI- 0 - Johan den Dunnen
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