Full data view for gene ABCB4

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.959C>T r.(?) p.(Ser320Phe) Unknown - pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.959C>T r.(?) p.(Ser320Phe) Unknown - likely pathogenic g.87076396G>A g.87447080G>A ABCB4(NM_000443.4):c.959C>T (p.S320F), ABCB4(NM_018849.2):c.959C>T (p.S320F) - ABCB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.959C>T r.(?) p.(Ser320Phe) Parent #1 - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - PFIC Fam10PatLP85 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
+?/. - c.959C>T r.(?) p.(Ser320Phe) Parent #1 - likely pathogenic (recessive) g.87076396G>A - - - ABCB4_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - PFIC Fam11PatLP130 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
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