Full data view for gene CYP3A4

Information The variants shown are described using the NM_017460.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 7 c.566T>C - r.(?) p.(Phe189Ser) CYP3A4*17 Parent #1 g.99366081A>G - 15615T>C (F189S) - CYP3A4_000041 Enzime activity in_vitro: Decrease PubMed: DaiĀ 2001 - rs4987161 In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.566T>C - r.(?) p.(Phe189Ser) CYP3A4*17 Parent #1 g.99366081A>G - 15615T>C (F189S) - CYP3A4_000041 reference haplotype CYP3A4*17 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4987161 Germline - - - 0 - DNA SEQ - - DMB-p - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - 0 - - 1 Julia Lopez
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