Full data view for gene CYP3A5

Information The variants shown are described using the NM_000777.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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     
-/- 3i c.219-237G>A r.= p.= CYP3A5*1A Parent #1 - benign g.99270539C>T g.99672916C>T 6986A>G - CYP3A5_000003 reference haplotype CYP3A5*1A; NOTE: current reference sequence is haplotype CYP3A5*3A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs776746 Germline yes - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*1 Both (homozygous) - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (homozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6010 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3016 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 12001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25013 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 40005 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6016 IP3 project, submitted - M no Netherlands Arabic - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3028 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 40001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 2005 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6020 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 31001 IP3 project, submitted - F no Netherlands Asian - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6011 IP3 project, submitted - M no Netherlands Asian - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1010 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 19002 IP3 project, submitted - F no Netherlands Asian - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25005 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25012 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6023 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 14001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 40002 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 18001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 9001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 42001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5007 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6009 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 21003 IP3 project, submitted - M no Netherlands Asian - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 23002 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5004 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
-/- 3i c.219-237G>A r.spl p.(Thr74fs) CYP3A5*1/*3 Parent #1 - benign g.99270539C>T g.99672916C>T - - CYP3A5_000003 expressor (heterozygous) IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6013 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
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