Full data view for gene SLCO1B1

Information The variants shown are described using the NM_006446.4 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Exon     

AscendingDNA change (cDNA)     

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RNA change     

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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     

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Owner     
+/+ 6 c.521T>C SLCO1B1*5 r.(?) p.(Val174Ala) Parent #1 - pathogenic g.21331549T>C g.21178615T>C - - SLCO1B1_000001 reference haplotype SLCO1B1*5; decreased activity PharmGKB-PA166128245 - rs4149056 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. - c.521T>C - r.(?) p.(Val174Ala) Unknown - benign g.21331549T>C g.21178615T>C SLCO1B1(NM_006446.4):c.521T>C (p.V174A), SLCO1B1(NM_006446.5):c.521T>C (p.V174A) - SLCO1B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.521T>C - r.(?) p.(Val174Ala) Unknown - benign g.21331549T>C g.21178615T>C SLCO1B1(NM_006446.4):c.521T>C (p.V174A), SLCO1B1(NM_006446.5):c.521T>C (p.V174A) - SLCO1B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.521T>C - r.(?) p.(Val174Ala) Unknown - benign g.21331549T>C g.21178615T>C SLCO1B1(NM_006446.4):c.521T>C (p.V174A), SLCO1B1(NM_006446.5):c.521T>C (p.V174A) - SLCO1B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Both (homozygous) - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity 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
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Both (homozygous) - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 2002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Both (homozygous) - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 2001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Both (homozygous) - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 17002 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity 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
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity 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
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity 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
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1011 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13010 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 43001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5017 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1007 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3019 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3021 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3023 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13009 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 42002 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6004 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5005 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 11005 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 19007 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 34001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 4001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 22008 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 43003 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 22002 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 41004 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6007 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3007 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1001 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1012 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3032 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1014 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 12003 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 13015 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 19006 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3022 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5008 IP3 project, submitted - M no Netherlands Arabic - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6014 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 9004 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 1015 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 22006 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25003 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 25007 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 41003 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 6008 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 9007 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 11003 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 3033 IP3 project, submitted - M no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 5001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
+/. 6 c.521T>C - r.(521u>c) p.(Val174Ala) Parent #1 - benign (!) g.21331549T>C g.21178615T>C - - SLCO1B1_000001 lowered transport activity IP3 project, submitted - - Germline - - - - - DNA arraySNP, PCRq saliva gene panel CYP2C9, CYP2C19, CYP2D6, CYP3A5, DPYD, TPMT, SLCO1B1, VKORC1 Healthy/Control 33001 IP3 project, submitted - F no Netherlands white - - - - 1 Jesse Swen
?/. - c.521T>C - r.(?) p.(Val174Ala) Parent #1 - VUS g.21331549T>C g.21178615T>C - - SLCO1B1_000001 drug response; 223 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4149056 Germline - 223/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 223 Mohammed Faruq
?/. - c.521T>C - r.(?) p.(Val174Ala) Both (homozygous) - VUS g.21331549T>C g.21178615T>C - - SLCO1B1_000001 drug response; 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4149056 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-/. - c.521T>C - r.(?) p.(Val174Ala) Unknown - benign g.21331549T>C - SLCO1B1(NM_006446.4):c.521T>C (p.V174A), SLCO1B1(NM_006446.5):c.521T>C (p.V174A) - SLCO1B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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