Full data view for gene CYP2C9

Information The variants shown are described using the NM_000771.3 transcript reference sequence.

381 entries on 4 pages. Showing entries 1 - 100.
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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     
-/. _1 c.-2663_-2662del r.(=) p.(=) CYP2C9*1D Parent #1 - benign g.96695777_96695778del g.94936020_94936021del - - CYP2C9_001001 - PubMed: King 2004 - - Germline - 0.016 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-/. _1 c.-2663_-2662del r.(=) p.(=) CYP2C9*2B Parent #1 - benign g.96695777_96695778del g.94936020_94936021del - - CYP2C9_001001 - PubMed: King 2004 - - Germline - 0.016 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-/. _1 c.-2663_-2662del r.(=) p.(=) CYP2C9*1B Parent #1 - benign g.96695777_96695778del g.94936020_94936021del - - CYP2C9_001001 - PubMed: King 2004 - - Germline - 0.10 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-2663_-2662del r.(=) p.(=) CYP2C9*11B Parent #1 - likely benign g.96695777_96695778del g.94936020_94936021del - - CYP2C9_001001 - PubMed: King 2004 - - Germline - 1/306 chromosomes - - - DNA PCRdig, SSCA, SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-/. _1 c.-2663_-2662del - p.= CYP2C9*1D Parent #1 - benign g.96695777_96695778del g.94936020_94936021del -2665delTG - CYP2C9_001001 reference haplotype CYP2C9*1D (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. _1 c.-2663_-2662del - p.= CYP2C9*1B Parent #1 - benign g.96695777_96695778del g.94936020_94936021del -2665delTG - CYP2C9_001001 reference haplotype CYP2C9*1B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-2663_-2662del - p.= CYP2C9*2B Parent #1 - VUS g.96695777_96695778del g.94936020_94936021del -2665delTG - CYP2C9_001001 reference haplotype CYP2C9*2B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-2663_-2662del - p.= CYP2C9*11B Parent #1 - VUS g.96695777_96695778del g.94936020_94936021del -2665delTG - CYP2C9_001001 reference haplotype CYP2C9*11B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-2251dupA r.(=) p.(=) - Parent #1 - VUS g.96696189dup g.94936432dup - - CYP2C9_001013 - PubMed: King 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-2163delA r.(=) p.(=) - Parent #1 - VUS g.96696277del g.94936520del - - CYP2C9_001014 - PubMed: King 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1911T>C r.(=) p.(=) CYP2C9*3A Parent #1 - likely benign g.96696529T>C g.94936772T>C - - CYP2C9_001007 - PubMed: King 2004 - - Germline - 0.020 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1911T>C r.(=) p.(=) CYP2C9*3B Parent #1 - likely benign g.96696529T>C g.94936772T>C - - CYP2C9_001007 - PubMed: King 2004 - - Germline - 0.062 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-1911T>C r.(=) p.(=) - Parent #1 - VUS g.96696529T>C g.94936772T>C -1912T>C - CYP2C9_001007 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1911T>C r.(=) p.(=) - Parent #2 - VUS g.96696529T>C g.94936772T>C -1912T>C - CYP2C9_001007 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1911T>C r.(=) p.(=) - Parent #1 - VUS g.96696529T>C g.94936772T>C -1912T>C - CYP2C9_001007 - PubMed: Zhao 2004 - - Unknown - 4/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 4 Johan den Dunnen
?/. _1 c.-1911T>C r.(=) p.(=) - Parent #1 - VUS g.96696529T>C g.94936772T>C -1912T>C - CYP2C9_001007 - PubMed: Zhao 2004 - - Unknown - 4/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 4 Johan den Dunnen
?/. _1 c.-1911T>C r.(=) p.(=) - Parent #1 - VUS g.96696529T>C g.94936772T>C -1912T>C - CYP2C9_001007 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - DNA SEQ - - DMBp - - - - - China - - - - - 4 Johan den Dunnen
+?/. _1 c.-1911T>C r.(=) p.(=) CYP2C9*3 Parent #1 - likely pathogenic g.96696529T>C g.94936772T>C T-1912C - CYP2C9_001007 haplotype CYP2C9*3; expression cloning promoter activity 0.4 PubMed: Shintani 2001 - - Unknown - 7/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 7 Johan den Dunnen
+/. _1 c.-1911T>C - p.= CYP2C9*3A Parent #1 - pathogenic g.96696529T>C g.94936772T>C - - CYP2C9_001007 reference haplotype CYP2C9*3A (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+/. _1 c.-1911T>C - p.= CYP2C9*3B Parent #1 - pathogenic g.96696529T>C g.94936772T>C - - CYP2C9_001007 reference haplotype CYP2C9*3B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1885C>G r.(=) p.(=) CYP2C9*3A Parent #1 - likely benign g.96696555C>G g.94936798C>G - - CYP2C9_001008 - PubMed: King 2004 - - Germline - 0.020 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1885C>G r.(=) p.(=) CYP2C9*3B Parent #1 - likely benign g.96696555C>G g.94936798C>G - - CYP2C9_001008 - PubMed: King 2004 - - Germline - 0.062 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-1885C>G r.(=) p.(=) - Parent #1 - VUS g.96696555C>G g.94936798C>G -1886C>G - CYP2C9_001008 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1885C>G r.(=) p.(=) - Parent #2 - VUS g.96696555C>G g.94936798C>G -1886C>G - CYP2C9_001008 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1885C>G r.(=) p.(=) - Parent #1 - VUS g.96696555C>G g.94936798C>G -1886C>G - CYP2C9_001008 - PubMed: Zhao 2004 - - Unknown - 4/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 4 Johan den Dunnen
?/. _1 c.-1885C>G r.(=) p.(=) - Parent #1 - VUS g.96696555C>G g.94936798C>G -1886C>G - CYP2C9_001008 - PubMed: Zhao 2004 - - Unknown - 4/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 4 Johan den Dunnen
?/. _1 c.-1885C>G r.(=) p.(=) - Parent #1 - VUS g.96696555C>G g.94936798C>G -1886C>G - CYP2C9_001008 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - DNA SEQ - - DMBp - - - - - China - - - - - 4 Johan den Dunnen
+?/. _1 c.-1885C>G r.(=) p.(=) CYP2C9*3 Parent #1 - likely pathogenic g.96696555C>G g.94936798C>G C-1886G - CYP2C9_001008 haplotype CYP2C9*3; expression cloning promoter activity 0.4 PubMed: Shintani 2001 - - Unknown - 7/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 7 Johan den Dunnen
?/. _1 c.-1885C>G - p.= CYP2C9*3A Parent #1 - VUS g.96696555C>G g.94936798C>G - - CYP2C9_001008 reference haplotype CYP2C9*3A (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1885C>G - p.= CYP2C9*3B Parent #1 - VUS g.96696555C>G g.94936798C>G - - CYP2C9_001008 reference haplotype CYP2C9*3B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1835C>T r.(=) p.(=) - Parent #1 - VUS g.96696605C>T g.94936848C>T -1836C>T - CYP2C9_001034 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - ? - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1565C>T r.(=) p.(=) - Parent #1 - VUS g.96696875C>T g.94937118C>T -1566C>T - CYP2C9_001021 - PubMed: Zhao 2004 - rs9332096 Unknown - 1/26 cases - - - DNA SEQ - - ? - - - - - India - - - - - 1 Johan den Dunnen
-/. _1 c.-1565C>T r.(=) p.(=) - Unknown - benign g.96696875C>T g.94937118C>T C-1566T - CYP2C9_001021 - PubMed: Shintani 2001 - rs9332096 Unknown - 17/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 17 Johan den Dunnen
?/. _1 c.-1565C>T r.(=) p.(=) - Parent #1 - VUS g.96696875C>T g.94937118C>T -1566C>T - CYP2C9_001021 - PubMed: Zhao 2004 - rs9332096 Unknown - 2/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 2 Johan den Dunnen
?/. _1 c.-1565C>T r.(=) p.(=) - Parent #1 - VUS g.96696875C>T g.94937118C>T -1566C>T - CYP2C9_001021 - PubMed: Zhao 2004 - rs9332096 Unknown - 8/59 cases - - - DNA SEQ - - ? - - - - - China - - - - - 8 Johan den Dunnen
-/. _1 c.-1565C>T r.(=) p.(=) - Unknown - benign g.96696875C>T g.94937118C>T C-1566T - CYP2C9_001021 expression cloning promoter activity 0.9 PubMed: Shintani 2001 - rs9332096 Unknown - 9/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 9 Johan den Dunnen
-?/. _1 c.-1537G>A r.(=) p.(=) CYP2C9*3A Parent #1 - likely benign g.96696903G>A g.94937146G>A - - CYP2C9_001009 - PubMed: King 2004 - - Germline - 0.020 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1537G>A r.(=) p.(=) CYP2C9*3B Parent #1 - likely benign g.96696903G>A g.94937146G>A - - CYP2C9_001009 - PubMed: King 2004 - - Germline - 0.062 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-1537G>A r.(=) p.(=) - Parent #1 - VUS g.96696903G>A g.94937146G>A -1538G>A - CYP2C9_001009 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1537G>A r.(=) p.(=) - Parent #2 - VUS g.96696903G>A g.94937146G>A -1538G>A - CYP2C9_001009 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-1537G>A r.(=) p.(=) - Parent #1 - VUS g.96696903G>A g.94937146G>A -1538G>A - CYP2C9_001009 - PubMed: Zhao 2004 - - Unknown - 4/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 4 Johan den Dunnen
?/. _1 c.-1537G>A r.(=) p.(=) - Parent #1 - VUS g.96696903G>A g.94937146G>A -1538G>A - CYP2C9_001009 - PubMed: Zhao 2004 - - Unknown - 4/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 4 Johan den Dunnen
?/. _1 c.-1537G>A r.(=) p.(=) - Parent #1 - VUS g.96696903G>A g.94937146G>A -1538G>A - CYP2C9_001009 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - DNA SEQ - - DMBp - - - - - China - - - - - 4 Johan den Dunnen
+?/. _1 c.-1537G>A r.(=) p.(=) CYP2C9*3 Parent #1 - likely pathogenic g.96696903G>A g.94937146G>A G-1538A - CYP2C9_001009 haplotype CYP2C9*3; expression cloning promoter activity 0.4 PubMed: Shintani 2001 - - Unknown - 7/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 7 Johan den Dunnen
?/. _1 c.-1537G>A - p.= CYP2C9*3A Parent #1 - VUS g.96696903G>A g.94937146G>A - - CYP2C9_001009 reference haplotype CYP2C9*3A (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1537G>A - p.= CYP2C9*3B Parent #1 - VUS g.96696903G>A g.94937146G>A - - CYP2C9_001009 reference haplotype CYP2C9*3B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) CYP2C9*2B Parent #1 - likely benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - rs4918758 Germline - 0.016 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) CYP2C9*1C Parent #1 - benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - rs4918758 Germline - 0.075 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) CYP2C9*1B Parent #1 - benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - rs4918758 Germline - 0.10 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) CYP2C9*2A Parent #1 - likely benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - rs4918758 Germline - 0.10 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 1/3 cases - - - DNA SEQ - - ? - - - - - - white - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 1/3 cases - - - DNA SEQ - - ? - - - - - - white - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 1/3 cases - - - DNA SEQ - - ? - - - - - - white - - - - 1 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) CYP2C9*11B Parent #1 - likely benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - rs4918758 Germline - 1/306 chromosomes - - - DNA PCRdig, SSCA, SEQ - - Healthy/Control - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) - Unknown - likely benign g.96697252C>T g.94937495C>T C-1189T - CYP2C9_001002 expression cloning promoter activity 0.5 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Shintani 2001 - rs4918758 Unknown - 1/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 12/26 cases - - - DNA SEQ - - ? - - - - - India - - - - - 12 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 12/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 12 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 15/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 15 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 15/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 15 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) - Unknown - likely benign g.96697252C>T g.94937495C>T C-1189T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Shintani 2001 - rs4918758 Unknown - 17/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 17 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) - Unknown - likely benign g.96697252C>T g.94937495C>T C-1189T - CYP2C9_001002 expression cloning promoter activity 0.7; incl. 61 homozygotes Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Shintani 2001 - rs4918758 Unknown - 187/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 187 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 24/59 cases - - - DNA SEQ - - ? - - - - - China - - - - - 24 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 24/59 cases - - - DNA SEQ - - ? - - - - - China - - - - - 24 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 26/59 cases - - - DNA SEQ - - ? - - - - - China - - - - - 26 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 7/26 cases - - - DNA SEQ - - ? - - - - - India - - - - - 7 Johan den Dunnen
-/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - benign g.96697252C>T g.94937495C>T -1189C>T - CYP2C9_001002 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Zhao 2004 - rs4918758 Unknown - 7/26 cases - - - DNA SEQ - - ? - - - - - India - - - - - 7 Johan den Dunnen
-?/. _1 c.-1188C>T r.(=) p.(=) - Parent #1 - likely benign g.96697252C>T g.94937495C>T C-1189T - CYP2C9_001002 haplotype CYP2C9*3; expression cloning promoter activity 0.4 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Shintani 2001 - rs4918758 Unknown - 7/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 7 Johan den Dunnen
-/. _1 c.-1188C>T - p.= CYP2C9*1B Parent #1 - benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 reference haplotype CYP2C9*1B (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4918758 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-/. _1 c.-1188C>T - p.= CYP2C9*1C Parent #1 - benign g.96697252C>T g.94937495C>T - - CYP2C9_001002 reference haplotype CYP2C9*1C (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4918758 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1188C>T - p.= CYP2C9*11B Parent #1 - VUS g.96697252C>T g.94937495C>T - - CYP2C9_001002 reference haplotype CYP2C9*11B (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4918758 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1188C>T - p.= CYP2C9*2A Parent #1 - VUS g.96697252C>T g.94937495C>T - - CYP2C9_001002 reference haplotype CYP2C9*2A (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4918758 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1188C>T - p.= CYP2C9*2B Parent #1 - VUS g.96697252C>T g.94937495C>T - - CYP2C9_001002 reference haplotype CYP2C9*2B (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4918758 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1188T>C r.(=) p.(=) CYP2C9*3B Parent #1 - likely benign g.96697252T>C g.94937495T>C - - CYP2C9_001002 - PubMed: King 2004 - rs4918758 Germline - 0.062 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-1188T>C - p.= CYP2C9*3B Parent #1 - VUS g.96697252T>C g.94937495T>C - - CYP2C9_001002 reference haplotype CYP2C9*3B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4918758 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-1096G>A r.(=) p.(=) CYP2C9*2B Parent #1 - likely benign g.96697344G>A g.94937587G>A - - CYP2C9_001003 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - - Germline - 0.016 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1096G>A r.(=) p.(=) CYP2C9*2A Parent #1 - likely benign g.96697344G>A g.94937587G>A - - CYP2C9_001003 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - - Germline - 0.10 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-1096G>A r.(=) p.(=) CYP2C9*2C Parent #1 - likely benign g.96697344G>A g.94937587G>A - - CYP2C9_001003 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: King 2004 - - Germline - 1/306 chromosomes - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-1096G>A - p.= CYP2C9*2A Parent #1 - VUS g.96697344G>A g.94937587G>A - - CYP2C9_001003 reference haplotype CYP2C9*2A (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1096G>A - p.= CYP2C9*2B Parent #1 - VUS g.96697344G>A g.94937587G>A - - CYP2C9_001003 reference haplotype CYP2C9*2B (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-1096G>A - p.= CYP2C9*2C Parent #1 - VUS g.96697344G>A g.94937587G>A - - CYP2C9_001003 reference haplotype CYP2C9*2C (predicted haplotype) Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
-?/. _1 c.-981G>A r.(=) p.(=) CYP2C9*3A Parent #1 - likely benign g.96697459G>A g.94937702G>A - - CYP2C9_001010 - PubMed: King 2004 - - Germline - 0.020 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-981G>A r.(=) p.(=) CYP2C9*3B Parent #1 - likely benign g.96697459G>A g.94937702G>A - - CYP2C9_001010 - PubMed: King 2004 - - Germline - 0.062 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-981G>A r.(=) p.(=) - Parent #1 - VUS g.96697459G>A g.94937702G>A -982G>A - CYP2C9_001010 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-981G>A r.(=) p.(=) - Parent #2 - VUS g.96697459G>A g.94937702G>A -982G>A - CYP2C9_001010 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-981G>A r.(=) p.(=) - Parent #1 - VUS g.96697459G>A g.94937702G>A -982G>A - CYP2C9_001010 - PubMed: Zhao 2004 - - Unknown - 4/26 cases - - - DNA SEQ - - DMBp - - - - - India - - - - - 4 Johan den Dunnen
?/. _1 c.-981G>A r.(=) p.(=) - Parent #1 - VUS g.96697459G>A g.94937702G>A -982G>A - CYP2C9_001010 - PubMed: Zhao 2004 - - Unknown - 4/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 4 Johan den Dunnen
?/. _1 c.-981G>A r.(=) p.(=) - Parent #1 - VUS g.96697459G>A g.94937702G>A -982G>A - CYP2C9_001010 - PubMed: Zhao 2004 - - Unknown - 4/59 cases - - - DNA SEQ - - DMBp - - - - - China - - - - - 4 Johan den Dunnen
?/. _1 c.-981G>A r.(=) p.(=) CYP2C9*3 Parent #1 - VUS g.96697459G>A g.94937702G>A G-982A - CYP2C9_001010 haplotype CYP2C9*3; expression cloning promoter activity 0.4 PubMed: Shintani 2001 - - Unknown - 7/366 chromosomes - - - DNA PCR, SSCA - - ? - - - - ? Japan - - - - - 7 Johan den Dunnen
?/. _1 c.-981G>A - p.= CYP2C9*3A Parent #1 - VUS g.96697459G>A g.94937702G>A - - CYP2C9_001010 reference haplotype CYP2C9*3A (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-981G>A - p.= CYP2C9*3B Parent #1 - VUS g.96697459G>A g.94937702G>A - - CYP2C9_001010 reference haplotype CYP2C9*3B (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
?/. _1 c.-742C>T r.(=) p.(=) - Parent #1 - VUS g.96697698C>T g.94937941C>T - - CYP2C9_001035 - PubMed: Zhao 2004 - - Unknown - 2/59 cases - - - DNA SEQ - - ? - - - - - China - - - - - 2 Johan den Dunnen
?/. _1 c.-633delT r.(=) p.(=) - Parent #1 - VUS g.96697807del g.94938050del - - CYP2C9_001036 - PubMed: Zhao 2004 - - Unknown - 2/37 cases - - - DNA SEQ - - ? - - - - - Malaysia - - - - - 2 Johan den Dunnen
-?/. _1 c.-620G>T r.(=) p.(=) CYP2C9*2B Parent #1 - likely benign g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: King 2004 - - Germline - 0.016 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. _1 c.-620G>T r.(=) p.(=) CYP2C9*2A Parent #1 - likely benign g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: King 2004 - - Germline - 0.10 (306 chromosomes) - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-620G>T r.(=) p.(=) - Parent #1 - VUS g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: Zhao 2004 - - Unknown - 1/26 cases - - - DNA SEQ - - ? - - - - - India - - - - - 1 Johan den Dunnen
?/. _1 c.-620G>T r.(=) p.(=) - Parent #1 - VUS g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: Zhao 2004 - - Unknown - 1/3 cases - - - DNA SEQ - - DMBp - - - - - - white - - - - 1 Johan den Dunnen
?/. _1 c.-620G>T r.(=) p.(=) - Parent #1 - VUS g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: Zhao 2004 - - Unknown - 1/3 cases - - - DNA SEQ - - DMBp - - - - - - white - - - - 1 Johan den Dunnen
?/. _1 c.-620G>T r.(=) p.(=) - Parent #2 - VUS g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: Zhao 2004 - - Unknown - 1/3 cases - - - DNA SEQ - - DMBp - - - - - - white - - - - 1 Johan den Dunnen
-?/. _1 c.-620G>T r.(=) p.(=) CYP2C9*2C Parent #1 - likely benign g.96697820G>T g.94938063G>T - - CYP2C9_001004 - PubMed: King 2004 - - Germline - 1/306 chromosomes - - - DNA PCRdig, SSCA, SEQ - - DMBp - - - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. _1 c.-620G>T - p.= CYP2C9*2A Parent #1 - VUS g.96697820G>T g.94938063G>T - - CYP2C9_001004 reference haplotype CYP2C9*2A (predicted haplotype) Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Johan den Dunnen
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