Full data view for gene CYP2C8

Information The variants shown are described using the NM_000770.3 transcript reference sequence.

103 entries on 2 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. _1 c.-2898T>C r.(=) p.(=) - Parent #1 - likely benign g.96832057A>G g.95072300A>G -2898T>C - CYP2C8_001026 14 homozygotes PubMed: Yeo 2011 - - Germline - 55/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. _1 c.-2599delA r.(=) p.(=) - Parent #1 - likely benign g.96831766del g.95072009del -2599delA - CYP2C8_001025 14 homozygotes PubMed: Yeo 2011 - - Germline - 55/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. _1 c.-2230G>A r.(=) p.(=) - Parent #1 - likely benign g.96831389C>T g.95071632C>T -2230G>A - CYP2C8_001024 15 homozygotes PubMed: Yeo 2011 - - Germline - 57/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. _1 c.-2028A>G r.(=) p.(=) - Parent #1 - likely benign g.96831187T>C g.95071430T>C -2028G>A - CYP2C8_001023 no homozygotes PubMed: Yeo 2011 - - Germline - 7/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. _1 c.-411C>T r.(=) p.(=) - Parent #1 - likely benign g.96829570G>A g.95069813G>A -411C>T - CYP2C8_001027 15 homozygotes PubMed: Yeo 2011 - - Germline - 57/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/-? _1 c.-370T>G r.= p.= CYP2C8*1C Parent #1 - likely benign g.96829529A>C g.95069772A>C -370T>G - CYP2C8_001002 reference haplotype CYP2C8*1C Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs17110453 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. _1 c.-370T>G r.(=) p.(=) CYP2C8*1C Parent #1 - likely benign g.96829529A>C g.95069772A>C T-370G - CYP2C8_001002 liver microsome analysis showed no significant expression differences PubMed: Bahadur 2002 - - Germline - 13/214 chromosomes - - - DNA SSCA, SEQ - - Healthy/Control - PubMed: Bahadur 2002 107 control individuals - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. _1 c.-370T>G r.(=) p.(=) CYP2C8*1C Parent #1 - likely benign g.96829529A>C g.95069772A>C -370T>G - CYP2C8_001002 6 homozygotes PubMed: Yeo 2011 - - Germline - 35/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/-? _1 c.-271C>A r.= p.= CYP2C8*1B Parent #1 - likely benign g.96829430G>T g.95069673G>T -271C>A - CYP2C8_001001 reference haplotype CYP2C8*1B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs7909236 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-/. _1 c.-271C>A r.(=) p.(=) CYP2C8*1B Parent #1 - benign g.96829430G>T g.95069673G>T C-271A - CYP2C8_001001 liver microsome analysis showed no expression differences PubMed: Bahadur 2002 - - Germline - 13/214 chromosomes - - - DNA SSCA, SEQ - - Healthy/Control - PubMed: Bahadur 2002 107 control individuals - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. _1 c.-271C>A r.(=) p.(=) CYP2C8*1B Parent #1 - likely benign g.96829430G>T g.95069673G>T -271C>A - CYP2C8_001001 no homozygotes PubMed: Yeo 2011 - - Germline - 8/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-/- 1_9 c.= r.(?) p.= CYP2C8*1A Parent #1 - benign g.96796885_96829159= - - - CYP2C8_000001 reference haplotype CYP2C8*1A Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 1i c.169-121C>T r.(=) p.(=) - Parent #1 - likely benign g.96827569G>A g.95067812G>A - - CYP2C8_001013 - PubMed: Soyama 2002 - - Germline - 1/108 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Soyama 2002 54 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 1i c.169-37C>T r.(?) p.= CYP2C8*2 Parent #1 - likely benign g.96827485G>A g.95067728G>A 1675C>T - CYP2C8_001003 decreased in vitro enzyme activity; reference haplotype CYP2C8*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572073 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 1i c.169-37C>T r.(?) p.= CYP2C8*3 Parent #1 - VUS g.96827485G>A g.95067728G>A 1675C>T - CYP2C8_001003 decreased in vitro enzyme activity; reference haplotype CYP2C8*3 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572073 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 2i c.332-64A>G r.(?) p.(=) - Parent #1 - likely benign g.96827178T>C g.95067421T>C 1982A>G - CYP2C8_001020 11 homozygotes PubMed: Yeo 2011 - - Germline - 51/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. 2i c.332-36G>A r.(?) p.= CYP2C8*2 Parent #1 - likely benign g.96827150C>T g.95067393C>T 2010G>A - CYP2C8_001004 decreased in vitro enzyme activity; reference haplotype CYP2C8*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572076 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 2i c.332-36G>A r.(?) p.= CYP2C8*3 Parent #1 - VUS g.96827150C>T g.95067393C>T 2010G>A - CYP2C8_001004 decreased in vitro enzyme activity; reference haplotype CYP2C8*3 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572076 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 2i c.332-6dup r.(?) p.= CYP2C8*2 Parent #1 - likely benign g.96827126dup g.95067369dup 2040_2041insT - CYP2C8_001005 decreased in vitro enzyme activity; reference haplotype CYP2C8*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572078 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 2i c.332-6dup r.(=) p.(=) - Parent #1 - likely benign g.96827126dup g.95067369dup 2041insT - CYP2C8_001005 no homozygotes PubMed: Yeo 2011 - - Germline - 26/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
?/. 3 c.416G>A r.(?) p.Arg139Lys CYP2C8*3 Parent #1 - VUS g.96827030C>T g.95067273C>T 2130G>A - CYP2C8_000003 decreased in vitro enzyme activity; reference haplotype CYP2C8*3 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572080 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 3 c.416G>A r.(?) p.Arg139Lys CYP2C8*3 Both (homozygous) - NA g.96827030C>T g.95067273C>T - - CYP2C8_000003 yeast cDNA expression cloning shows severely reduced enzymatic activity; dramatically altered IC50 PubMed: Gao 2010 - - In vitro (cloned) - - - - - DNA SEQ - - DMBp - PubMed: Gao 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.416G>A r.(?) p.(Arg139Lys) CYP2C8*3 Parent #1 - pathogenic g.96827030C>T g.95067273C>T - - CYP2C8_000003 - PubMed: Dai 2001 - - Germline - 44/340 chromosomes BspQI+;SapI+;BseRI- - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 170 control European individuals - - - European - - - - 1 Johan den Dunnen
+/. 3 c.416G>A r.(?) p.(Arg139Lys) CYP2C8*3 Parent #1 - pathogenic g.96827030C>T g.95067273C>T - - CYP2C8_000003 - PubMed: Dai 2001 - - Germline - 3/164 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 82 control African-American individuals - - United States African-American - - - - 1 Johan den Dunnen
+/. 3 c.416G>A r.(?) p.Arg139Lys CYP2C8*3 Both (homozygous) - NA g.96827030C>T g.95067273C>T - - CYP2C8_000003 cDNA expression cloning shows defective paclitaxel and arachidonic acid metabolism PubMed: Dai 2001 - - In vitro (cloned) - - - - - DNA SEQ - - DMBup - PubMed: Dai 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.416G>A r.(?) p.Arg139Lys - Parent #1 - NA g.96827030C>T g.95067273C>T - - CYP2C8_000003 yeast cDNA expression cloning shows normal enzymatic activity; dramatically altered IC50 values (qualitatively and quantitatively reduces risk of in vivo paclitaxel–raloxifene and paclitaxel-troglitazone interactions) PubMed: Gao 2010 - - In vitro (cloned) - - - - - DNA SEQ - - Healthy/Control - PubMed: Gao 2010 - - - - - - - - - 1 Johan den Dunnen
+?/. 3 c.419G>A r.(?) p.(Arg139Lys) CYP2C8*3 Parent #1 - likely pathogenic g.96827027C>T g.95067270C>T G416A - CYP2C8_001009 liver microsome analysis showed showed significantly lower paclitaxel 6alpha-hydroxylase activity PubMed: Bahadur 2002 - - Germline - 16/214 chromosomes - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Bahadur 2002 107 control individuals - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ 3 c.475del r.(?) p.Thr159Profs*19 CYP2C8*5 Parent #1 - pathogenic g.96826975del g.95067218del 2189delA (159fs) - CYP2C8_000005 no in vivo enzyme activity; reference haplotype CYP2C8*5 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72558196 Germline - - - - - DNA SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 3 c.475del r.(?) p.(Thr159Profs*19) CYP2C8*5 Parent #1 - pathogenic g.96826975del g.95067218del - - CYP2C8_000005 - PubMed: Soyama 2002 - - Germline - 1/108 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Soyama 2002 54 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
+/+ 3 c.475del r.(?) p.(Thr159Profs*19) CYP2C8*5 Parent #1 - pathogenic g.96826975del g.95067218del - - CYP2C8_000005 - PubMed: Nakajima 2006 - - Germline - 1/470 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Nakajima 2006 235 individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 3 c.480G>A r.(?) p.(Lys160=) - Parent #1 - likely benign g.96826966C>T g.95067209C>T K160K - CYP2C8_001012 - PubMed: Dai 2001 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 - - - - - - - - - 1 Johan den Dunnen
-?/. 3i c.482-97del r.(=) p.(=) - Parent #1 - likely benign g.96824815del g.95065058del IVS3-97delT - CYP2C8_001014 - PubMed: Soyama 2002 - - Germline - 1/108 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Soyama 2002 54 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 3i c.482-21T>A r.(?) p.(=) - Parent #1 - likely benign g.96824738A>T g.95064981A>T 4424T>A - CYP2C8_001021 1 homozygotes PubMed: Yeo 2011 - - Germline - 6/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-/- 4 c.511G>A r.(?) p.Gly171Ser CYP2C8*6 Parent #1 - benign g.96824688C>T g.95064931C>T 4472G>A - CYP2C8_000006 unchanged in vitro enzyme activity; reference haplotype CYP2C8*6 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs142886225 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 4 c.511G>A r.(?) p.(Gly171Ser) CYP2C8*6 Parent #1 - likely benign g.96824688C>T g.95064931C>T - - CYP2C8_000006 - PubMed: Hichiya 2005 - - Germline - 1/201 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Hichiya 2005 201 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 4 c.511G>A r.(?) p.Gly171Ser CYP2C8*6 Both (homozygous) - NA g.96824688C>T g.95064931C>T - - CYP2C8_000006 cDNA expression cloning COS-1 cells shows normal expression level, normal paclitaxel 6alpha-hydroxylation activity PubMed: Hichiya 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.511G>A r.(?) p.(Gly171Ser) CYP2C8*6 Parent #1 - likely benign g.96824688C>T g.95064931C>T 4472G>A (G171S) - CYP2C8_000006 no homozygotes PubMed: Yeo 2011 - - Germline - 1/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
+/+ 4 c.556C>G r.(?) p.Arg186Gly CYP2C8*8 Parent #1 - pathogenic g.96824643G>C g.95064886G>C 4517C>G - CYP2C8_000008 decreased in vitro enzyme activity; reference haplotype CYP2C8*8 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72558195 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 4 c.556C>G r.(?) p.(Arg186Gly) CYP2C8*8 Parent #1 - pathogenic g.96824643G>C g.95064886G>C - - CYP2C8_000008 - PubMed: Hichiya 2005 - - Germline - 1/201 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Hichiya 2005 201 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.556C>G r.(?) p.Arg186Gly CYP2C8*8 Both (homozygous) - NA g.96824643G>C g.95064886G>C - - CYP2C8_000008 cDNA expression cloning COS-1 cells shows reduced expression level (0.40), normal mRNA expression, normal protein localisation, strongly reduced paclitaxel 6alpha-hydroxylation activity PubMed: Hichiya 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.556C>G r.(?) p.(Arg186Gly) CYP2C8*8 Parent #1 - pathogenic g.96824643G>C g.95064886G>C - - CYP2C8_000008 - PubMed: Nakajima 2006 - - Germline - 1/470 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Nakajima 2006 235 individuals - - Japan - - - - - 1 Johan den Dunnen
+/+ 4 c.556C>T r.(?) p.Arg186* CYP2C8*7 Parent #1 - pathogenic g.96824643G>A g.95064886G>A 4517C>T - CYP2C8_000007 no in vitro enzyme activity; reference haplotype CYP2C8*7 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72558195 Germline - - - - - DNA SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 4 c.556C>T r.(?) p.(Arg186*) CYP2C8*7 Parent #1 - pathogenic g.96824643G>A g.95064886G>A - - CYP2C8_000007 - PubMed: Hichiya 2005 - - Germline - 1/201 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Hichiya 2005 201 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
+/. 4 c.556C>T r.(?) p.Arg186* CYP2C8*7 Both (homozygous) - NA g.96824643G>A g.95064886G>A - - CYP2C8_000007 cDNA expression cloning COS-1 cells gives undetectable protein, no paclitaxel 6alpha-hydroxylation activity PubMed: Hichiya 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.556C>T r.(?) p.(Arg186*) CYP2C8*7 Parent #1 - pathogenic g.96824643G>A g.95064886G>A - - CYP2C8_000007 - PubMed: Nakajima 2006 - - Germline - 1/470 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Nakajima 2006 235 individuals - - Japan - - - - - 1 Johan den Dunnen
-/- 5 c.669T>G r.(?) p.Ile223Met CYP2C8*13 Parent #1 - benign g.96818242A>C g.95058485A>C 10918T>G - CYP2C8_000013 unchanged in vitro enzyme activity; reference haplotype CYP2C8*13 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 5 c.669T>G r.(?) p.(Ile223Met) CYP2C8*13 Parent #1 - likely benign g.96818242A>C g.95058485A>C - - CYP2C8_000013 - PubMed: Nakajima 2006 - - Germline ? 1/470 chromosomes CviAII+;FatI+;NlaIII+ - - DNA SEQ - - Healthy/Control - PubMed: Nakajima 2006 235 individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 5 c.669T>G r.(?) p.Ile223Met CYP2C8*13 Both (homozygous) - NA g.96818242A>C g.95058485A>C - - CYP2C8_000013 cDNA yeast expression cloning shows normal expression, normal affinity toward paclitaxel PubMed: Hanioka 2010 - - In vitro (cloned) - - - - - DNA SEQ - - Healthy/Control - PubMed: Hanioka 2010 - - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.712G>C r.(?) p.Ala238Pro CYP2C8*14 Parent #1 - pathogenic g.96818199C>G g.95058442C>G 10961G>C - CYP2C8_000014 decreased in vitro enzyme activity; reference haplotype CYP2C8*14 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs188934928 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 5 c.712G>C r.(?) p.(Ala238Pro) CYP2C8*14 Parent #1 - pathogenic g.96818199C>G g.95058442C>G - - CYP2C8_000014 - PubMed: Nakajima 2006 - - Germline - 1/470 chromosomes MnlI+ - - DNA SEQ - - Healthy/Control - PubMed: Nakajima 2006 235 individuals - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.712G>C r.(?) p.Ala238Pro CYP2C8*14 Both (homozygous) - NA g.96818199C>G g.95058442C>G - - CYP2C8_000014 cDNA yeast expression cloning shows reduced expression, decreased affinity toward paclitaxel PubMed: Hanioka 2010 - - In vitro (cloned) - - - - - DNA SEQ - - DMBp - PubMed: Hanioka 2010 - - - - - - - - - 1 Johan den Dunnen
-/- 5 c.740A>G r.(?) p.Lys247Arg CYP2C8*9 Parent #1 - benign g.96818171T>C g.95058414T>C 10989A>G - CYP2C8_000009 unchanged in vitro enzyme activity; reference haplotype CYP2C8*9 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 5 c.740A>G r.(?) p.(Lys247Arg) CYP2C8*9 Parent #1 - likely benign g.96818171T>C g.95058414T>C - - CYP2C8_000009 - PubMed: Hichiya 2005 - - Germline - 1/201 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Hichiya 2005 201 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 5 c.740A>G r.(?) p.Lys247Arg CYP2C8*9 Both (homozygous) - NA g.96818171T>C g.95058414T>C - - CYP2C8_000009 cDNA expression cloning COS-1 cells shows normal expression level, normal paclitaxel 6alpha-hydroxylation activity PubMed: Hichiya 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.792C>G r.(?) p.Ile264Met CYP2C8*4 Parent #1 - pathogenic g.96818119G>C g.95058362G>C 11041C>G - CYP2C8_000004 decreased in vitro enzyme activity; reference haplotype CYP2C8*4 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs1058930 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
+?/. 5 c.792C>G r.(?) p.(Ile264Met) CYP2C8*4 Parent #1 - likely pathogenic g.96818119G>C g.95058362G>C C792G - CYP2C8_000004 all heterozygous cases; liver microsome analysis showed showed significantly lower paclitaxel 6alpha-hydroxylase activity PubMed: Bahadur 2002 - - Germline - 8/200 chromosomes BspDI-;ClaI-;TaqI- - - DNA SSCA, SEQ - - Healthy/Control - PubMed: Bahadur 2002 100 control individuals - - United Kingdom (Great Britain) - - - - - 8 Johan den Dunnen
+?/. 5 c.792C>G r.(?) p.Ile264Met CYP2C8*4 Both (homozygous) - NA g.96818119G>C g.95058362G>C - - CYP2C8_000004 yeast cDNA expression cloning shows reduced enzymatic activity; normal IC50 values PubMed: Gao 2010 - - In vitro (cloned) - - - - - DNA SEQ - - DMBp - PubMed: Gao 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.792C>G r.(?) p.Ile264Met CYP2C8*4 Both (homozygous) - NA g.96818119G>C g.95058362G>C - - CYP2C8_000004 cDNA expression cloning in E.coli shows a reduced paclitaxel metabolic activity (to 0.25) and 2 twofold increseased paclitaxel binding activity. PubMed: Jian 2011 - - In vitro (cloned) - - - - - DNA SEQ - - DMBp - PubMed: Jian 2011 - - - - - - - - - 1 Johan den Dunnen
+/+ 5 c.805A>T r.(?) p.Ile269Phe CYP2C8*2 Parent #1 - pathogenic g.96818106T>A g.95058349T>A 11054A>T - CYP2C8_000002 decreased in vitro enzyme activity; reference haplotype CYP2C8*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs11572103 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 5 c.805A>T r.(?) p.(Ile269Phe) CYP2C8*2 Parent #1 - pathogenic g.96818106T>A g.95058349T>A - - CYP2C8_000002 not in 170 European individuals PubMed: Dai 2001 - - Germline - 29/164 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 82 control individuals - - United States African-American - - - - 1 Johan den Dunnen
+?/. 5 c.805A>T r.(?) p.Ile269Phe CYP2C8*2 Parent #1 - NA g.96818106T>A g.95058349T>A - - CYP2C8_000002 yeast cDNA expression cloning shows reduced enzymatic activity; normal IC50 value PubMed: Gao 2010 - - In vitro (cloned) - - - - - DNA SEQ - - ? - PubMed: Gao 2010 - - - - - - - - - 1 Johan den Dunnen
?/. 5 c.805A>T r.(?) p.(Ile269Phe) CYP2C8*2 Parent #1 - VUS g.96818106T>A g.95058349T>A A805T - CYP2C8_000002 - PubMed: Bahadur 2002 - - Germline - 1/232 chromosomes - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Bahadur 2002 116 control individuals - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 5 c.805A>T r.(?) p.Ile269Phe CYP2C8*2 Both (homozygous) - NA g.96818106T>A g.95058349T>A - - CYP2C8_000002 cDNA expression cloning shows 2-fold higher Km and 2-fold lower intrinsic clearance for paclitaxel, turnover of arachidonic acid metabolism unaffected PubMed: Dai 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.805A>T r.(?) p.(Ile269Phe) - Parent #1 - benign g.96818106T>A g.95058349T>A - - CYP2C8_000002 68 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11572103 Germline - 68/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 68 Mohammed Faruq
-/. - c.805A>T r.(?) p.(Ile269Phe) - Both (homozygous) - benign g.96818106T>A g.95058349T>A - - CYP2C8_000002 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11572103 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/+ 6 c.820G>T r.(?) p.Glu274* CYP2C8*11 Parent #1 - pathogenic g.96805708C>A g.95045951C>A 23452G>T - CYP2C8_000011 no in vitro enzyme activity; reference haplotype CYP2C8*11 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs78637571 Germline - - - - - DNA SEQ - - DMBup - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 6 c.820G>T r.(?) p.(Glu274*) CYP2C8*1;*11 Parent #2 - pathogenic g.96805708C>A g.95045951C>A 23452G>T - CYP2C8_000011 higher plasma concentrations of rosiglitazone after single dose, reduced oral clearance; not detected in African-Americans and Europeans (white) PubMed: Yeo 2011 - - Germline - 3/447 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 447 Korean individuals - - Korea - - - - - 3 Johan den Dunnen
+/. 6 c.820G>T r.(?) p.(Glu274*) CYP2C8*1;*11 Parent #2 - pathogenic g.96805708C>A g.95045951C>A - - CYP2C8_000011 higher plasma concentrations of rosiglitazone after single dose, reduced oral clearance PubMed: Yeo 2011 - - Germline ? 1/348 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 348 individuals ? ? China - - - - - 1 Johan den Dunnen
+/. 6 c.820G>T r.(?) p.(Glu274*) CYP2C8*1;*11 Parent #2 - pathogenic g.96805708C>A g.95045951C>A - - CYP2C8_000011 higher plasma concentrations of rosiglitazone after single dose, reduced oral clearance PubMed: Yeo 2011 - - Germline - 2/100 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 100 Vietnamese individuals - - Viet Nam - - - - - 2 Johan den Dunnen
-?/. 7 c.1059C>T r.(?) p.(His353=) - Parent #1 - likely benign g.96802737G>A g.95042980G>A H353H - CYP2C8_001011 - PubMed: Dai 2001 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 - - - - - - - - - 1 Johan den Dunnen
-/- 7 c.1149G>T r.spl? p.Lys383Asn CYP2C8*10 Parent #1 - benign g.96802647C>A g.95042890C>A 26513G>T - CYP2C8_000010 unchanged in vitro enzyme activity; reference haplotype CYP2C8*10 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 7 c.1149G>T r.(?) p.(Lys383Asn) CYP2C8*10 Parent #1 - likely benign g.96802647C>A g.95042890C>A - - CYP2C8_000010 - PubMed: Hichiya 2005 - - Germline - 1/201 individuals - - - DNA SEQ - - Healthy/Control - PubMed: Hichiya 2005 201 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. 7 c.1149G>T r.(?) p.Lys383Asn CYP2C8*10 Both (homozygous) - NA g.96802647C>A g.95042890C>A - - CYP2C8_000010 cDNA expression cloning COS-1 cells shows normal expression level, normal paclitaxel 6alpha-hydroxylation activity PubMed: Hichiya 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 7i c.1149+49T>A r.(?) p.= CYP2C8*2 Parent #1 - likely benign g.96802598A>T g.95042841A>T 26562T>A - CYP2C8_001006 decreased in vitro enzyme activity; reference haplotype CYP2C8*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2275620 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 7i c.1149+49T>A r.(?) p.= CYP2C8*3 Parent #1 - VUS g.96802598A>T g.95042841A>T 26562T>A - CYP2C8_001006 decreased in vitro enzyme activity; reference haplotype CYP2C8*3 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2275620 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
-?/. 7i c.1149+49T>A r.(?) p.(=) - Parent #1 - likely benign g.96802598A>T g.95042841A>T 26562T>A - CYP2C8_001006 11 homozygotes PubMed: Yeo 2011 - - Germline - 51/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. 7i c.1149+71C>T r.(=) p.(=) - Parent #1 - likely benign g.96802576G>A g.95042819G>A IVS7+71C>T - CYP2C8_001015 - PubMed: Soyama 2002 - - Germline - 3/108 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Soyama 2002 54 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
-?/. - c.1150G>A r.(?) p.(Gly384Ser) - Unknown - likely benign g.96798795C>T - CYP2C8(NM_001198855.1):c.940G>A (p.G314S) - CYP2C8_001029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1169T>C r.(?) p.(Leu390Ser) - Parent #1 - VUS g.96798776A>G g.95039019A>G T1169C - CYP2C8_001010 - PubMed: Bahadur 2002 - - Germline - 1/232 chromosomes - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Bahadur 2002 116 control individuals - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 8 c.1196A>G r.(?) p.Lys399Arg CYP2C8*3 Parent #1 - VUS g.96798749T>C g.95038992T>C 30411A>G - CYP2C8_001007 decreased in vitro enzyme activity; reference haplotype CYP2C8*3 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs10509681 Germline - - - - - DNA SEQ - - DMBp - - reference haplotype - - - - - - - - 1 Sarah C Sim
+/. 8 c.1196A>G r.(?) p.Lys399Arg CYP2C8*3 Both (homozygous) - NA g.96798749T>C g.95038992T>C - - CYP2C8_001007 yeast cDNA expression cloning shows severly reduced enzymatic activity; dramatically altered IC50 PubMed: Gao 2010 - - In vitro (cloned) - - - - - DNA SEQ - - DMBp - PubMed: Gao 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 9 c.1196A>G r.(?) p.(Lys399Arg) CYP2C8*3 Parent #1 - pathogenic g.96798749T>C g.95038992T>C - - CYP2C8_001007 - PubMed: Dai 2001 - - Germline - 44/340 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 170 control European individuals - - - European - - - - 1 Johan den Dunnen
+?/. 8 c.1196A>G r.(?) p.(Lys399Arg) CYP2C8*3 Parent #1 - likely pathogenic g.96798749T>C g.95038992T>C A1196G - CYP2C8_001007 liver microsome analysis showed showed significantly lower paclitaxel 6alpha-hydroxylase activity PubMed: Bahadur 2002 - - Germline - 16/214 chromosomes - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Bahadur 2002 107 control individuals - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 8 c.1196A>G r.(?) p.(Lys399Arg) CYP2C8*3 Parent #1 - pathogenic g.96798749T>C g.95038992T>C - - CYP2C8_001007 - PubMed: Dai 2001 - - Germline - 3/164 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Dai 2001 82 control African-American individuals - - United States African-American - - - - 1 Johan den Dunnen
+/. 8 c.1196A>G r.(?) p.Lys399Arg CYP2C8*3 Both (homozygous) - NA g.96798749T>C g.95038992T>C - - CYP2C8_001007 cDNA expression cloning shows defective paclitaxel and arachidonic acid metabolism PubMed: Dai 2001 - - In vitro (cloned) - - - - - DNA SEQ - - DMBup - PubMed: Dai 2001 - - - - - - - - - 1 Johan den Dunnen
+/. 8 c.1196A>G r.(?) p.Lys399Arg - Both (homozygous) - NA g.96798749T>C g.95038992T>C - - CYP2C8_001007 yeast cDNA expression cloning shows strongly reduced enzymatic activity; dramatically altered IC50 values PubMed: Gao 2010 - - In vitro (cloned) - - - - - DNA SEQ - - Healthy/Control - PubMed: Gao 2010 - - - - - - - - - 1 Johan den Dunnen
+?/. 8 c.1196A>G r.(?) p.Lys399Arg - Both (homozygous) - NA g.96798749T>C g.95038992T>C - - CYP2C8_001007 cDNA expression cloning HepG2 cells shows reduced protein expression (normal RNA) and reduced values for Vmax and clearance PubMed: Soyama 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1196A>G r.(?) p.(Lys399Arg) - Parent #1 - VUS g.96798749T>C g.95038992T>C - - CYP2C8_001007 drug response; 200 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10509681 Germline - 200/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 200 Mohammed Faruq
?/. - c.1196A>G r.(?) p.(Lys399Arg) - Both (homozygous) - VUS g.96798749T>C g.95038992T>C - - CYP2C8_001007 drug response; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs10509681 Germline - 4/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.1198G>T r.(?) p.(Glu400Ter) - Unknown - VUS g.96798747C>A g.95038990C>A CYP2C8(NM_001198855.1):c.988G>T (p.E330*) - CYP2C8_001028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1210C>G r.(?) p.(Pro404Ala) - Parent #1 - pathogenic g.96798735G>C g.95038978G>C - - CYP2C8_001022 - PubMed: Soyama 2001 - - Germline - 1/146 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Soyama 2001 analysis 73 cell lines - - Japan - - - - - 1 Johan den Dunnen
+/. 8 c.1210C>G r.(?) p.Pro404Ala - Both (homozygous) - NA g.96798735G>C g.95038978G>C - - CYP2C8_001022 cDNA expression cloning HepG2 cells shows reduced protein expression (RNA normal) and significantly reduced clearance (normal Km) PubMed: Soyama 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.1210C>G r.(?) p.Pro404Ala - Both (homozygous) - NA g.96798735G>C g.95038978G>C - - CYP2C8_001022 cDNA expression cloning in E.coli shows a reduced paclitaxel metabolic activity (to 0.30) and 2 twofold decreseased paclitaxel binding activity PubMed: Jian 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 8 c.1230C>T r.(?) p.(Gly410=) - Parent #1 - likely benign g.96798715G>A g.95038958G>A 30445C>T (G400G) - CYP2C8_001019 no homozygotes PubMed: Yeo 2011 - - Germline - 2/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. 8 c.1230C>T r.(?) p.(Gly410=) - Parent #1 - likely benign g.96798715G>A g.95038958G>A - - CYP2C8_001019 - PubMed: Nakajima 2006 - - Germline - 9/470 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Nakajima 2006 235 individuals - - Japan - - - - - 9 Johan den Dunnen
-?/. 8i c.1291+106G>A r.(?) p.(=) - Parent #1 - likely benign g.96798548C>T g.95038791C>T 30612G>A - CYP2C8_001018 8 homozygotes PubMed: Yeo 2011 - - Germline - 44/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. 8i c.1291+130T>C r.(?) p.(=) - Parent #1 - likely benign g.96798524A>G g.95038767A>G 30636T>C - CYP2C8_001017 no homozygotes PubMed: Yeo 2011 - - Germline - 1/100 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Yeo 2011 50 Korean individuals - - Korea - - - - - 1 Johan den Dunnen
-?/. 8i c.1292-204A>G r.(=) p.(=) - Parent #1 - likely benign g.96797270T>C g.95037513T>C IVS8-204A>G - CYP2C8_001016 - PubMed: Soyama 2002 - - Germline - 4/108 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Soyama 2002 54 Japanese individuals - - Japan - - - - - 1 Johan den Dunnen
?/. 9 c.1382_1384del r.(?) p.Val461del CYP2C8*12 Parent #1 - VUS g.96796976_96796978del g.95037219_95037221del 32184_32186delTTG (461delV) - CYP2C8_000012 reference haplotype CYP2C8*12 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs3832694 Germline - - - - - DNA SEQ - - Healthy/Control - - reference haplotype - - - - - - - - 1 Sarah C Sim
?/. 9 c.1382_1384del r.(?) p.(Val461del) CYP2C8*12 Parent #1 - VUS g.96796976_96796978del g.95037219_95037221del - - CYP2C8_000012 - PubMed: Saito 2007 - - Germline - 1/347 individuals Hpy188I+ - - DNA SEQ - - Healthy/Control - PubMed: Saito 2007 - - - Japan - - - - - 1 Johan den Dunnen
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