All variants in the ABCB4 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.523A>G r.(?) p.(Thr175Ala) - likely benign g.87082273T>C g.87452957T>C ABCB4(NM_018849.3):c.523A>G (p.T175A) - ABCB4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.523A>G r.(?) p.(Thr175Ala) - likely benign g.87082273T>C g.87452957T>C - - ABCB4_000053 61 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58238559 Germline - 61/2794 individuals - 0 - Mohammed Faruq
-?/. - c.523A>G r.(?) p.(Thr175Ala) - likely benign g.87082273T>C g.87452957T>C - - ABCB4_000053 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58238559 Germline - 1/2794 individuals - 0 - Mohammed Faruq
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