Full data view for gene CYP3A4

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

156 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-836_-835insTGGAGTGAA r.(=) p.(=) CYP3A4*15B Parent #1 - likely benign g.99382542_99382543insACTCCATTC g.99784919_99784920insACTCCATTC -845_-844insATGGAGTGA - CYP3A4_000067 - PubMed: Hamzeiy 2002 - - Germline - - - - - DNA SEQ - - - - PubMed: Hamzeiy 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-836_-835insTGGAGTGAA r.(=) p.(=) CYP3A4*15B Parent #1 - likely benign g.99382542_99382543insACTCCATTC g.99784919_99784920insACTCCATTC -845_-844insATGGAGTGA - CYP3A4_000067 reference haplotype CYP3A4*15B / Deduced position Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-747C>G r.(=) p.(=) CYP3A4*1F Parent #1 - likely benign g.99382451G>C g.99784828G>C -747C>G - CYP3A4_000066 - PubMed: Hamzeiy 2002 - - Germline - - - - - DNA SEQ - - - - PubMed: Hamzeiy 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-747C>G r.(=) p.(=) CYP3A4*1F Parent #1 - likely benign g.99382451G>C g.99784828G>C -747C>G - CYP3A4_000066 reference haplotype CYP3A4*1F Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-655A>G r.(=) p.(=) CYP3A4*1K Parent #1 - likely benign g.99382359T>C g.99784736T>C -655A>G - CYP3A4_000065 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-655A>G r.(=) p.(=) CYP3A4*1K Parent #1 - likely benign g.99382359T>C g.99784736T>C -655A>G - CYP3A4_000065 reference haplotype CYP3A4*1K Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-630A>G r.(=) p.(=) CYP3A4*1L Parent #1 - likely benign g.99382334T>C g.99784711T>C -630A>G - CYP3A4_000064 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-630A>G r.(=) p.(=) CYP3A4*1L Parent #1 - likely benign g.99382334T>C g.99784711T>C -630A>G - CYP3A4_000064 reference haplotype CYP3A4*1L Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-444T>G r.(=) p.(=) CYP3A4*1C Parent #1 - likely benign g.99382148A>C g.99784525A>C -444T>G - CYP3A4_000063 - PubMed: Kuehl 2001 - - Germline - - - - - DNA SEQ - - - - PubMed: Kuehl 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-444T>G r.(=) p.(=) CYP3A4*1C Parent #1 - likely benign g.99382148A>C g.99784525A>C -444T>G - CYP3A4_000063 reference haplotype CYP3A4*1C Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-369T>A r.(=) p.(=) CYP3A4*1E Parent #1 - likely benign g.99382073A>T g.99784450A>T -369T>A - CYP3A4_000061 - PubMed: Hamzeiy 2002 - - Germline - - - - - DNA SEQ - - - - PubMed: Hamzeiy 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-369T>A r.(=) p.(=) CYP3A4*1E Parent #1 - likely benign g.99382073A>T g.99784450A>T -369T>A - CYP3A4_000061 reference haplotype CYP3A4*1E Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-156C>A r.(=) p.(=) CYP3A4*1M Parent #1 - likely benign g.99381860G>T g.99784237G>T -156C>A - CYP3A4_000060 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-156C>A r.(=) p.(=) CYP3A4*1M Parent #1 - likely benign g.99381860G>T g.99784237G>T -156C>A - CYP3A4_000060 reference haplotype CYP3A4*1M Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*1B Parent #1 - likely benign g.99382096G - -392A>G - CYP3A4_000062 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Rebbeck 1998 ,PubMed: Westlind 1999 - rs2740574 Germline - - - - - DNA SEQ - - - - PubMed: Rebbeck 1998 ,PubMed: Westlind 1999 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*15B Parent #1 - likely benign g.99382096G -  -392A>G - CYP3A4_000062 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Hamzeiy 2002 - - Germline - - - - - DNA SEQ - - - - PubMed: Hamzeiy 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*23 Parent #1 - likely benign g.99382096G - -392A>G - CYP3A4_000062 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Drögemöller 2013 - - Germline - - - - - DNA SEQ - - - - PubMed: Drögemöller 2013 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*24 Parent #1 - likely benign g.99382096G - -392A>G - CYP3A4_000062 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Drögemöller 2013 - - Germline - - - - - DNA SEQ - - - - PubMed: Drögemöller 2013 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*1B Parent #1 - likely benign g.99382096G - -392A>G - CYP3A4_000062 reference haplotype CYP3A4*1B / Deduced position / G not found, found A instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs2740574 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*15B Parent #1 - likely benign g.99382096G -  -392A>G - CYP3A4_000062 reference haplotype CYP3A4*15B / Deduced position / G not found, found A instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*23 Parent #1 - likely benign g.99382096G - -392A>G - CYP3A4_000062 reference haplotype CYP3A4*23 / Deduced position / G not found, found A instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-392G r.(=) p.(=) CYP3A4*24 Parent #1 - likely benign g.99382096G - -392A>G - CYP3A4_000062 reference haplotype CYP3A4*24 / Deduced position / G not found, found A instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-62C>A r.(=) p.(=) CYP3A4*1D Parent #1 - likely benign g.99381766G>T g.99784143G>T -62C>A - CYP3A4_000059 - PubMed: Kuehl 2001 - - Germline - - - - - DNA SEQ - - - - PubMed: Kuehl 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.-62C>A r.(=) p.(=) CYP3A4*1D Parent #1 - likely benign g.99381766G>T g.99784143G>T -62C>A - CYP3A4_000059 reference haplotype CYP3A4*1D Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.44T>C r.(?) p.(Leu15Pro) CYP3A4*14 Parent #1 - likely benign g.99381661A>G g.99784038A>G 44T>C (L15P) - CYP3A4_000058 - PubMed: Lamba 2002 - rs12721634 Germline - - - - - DNA SEQ - - - - PubMed: Lamba 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.44T>C r.(?) p.(Leu15Pro) CYP3A4*14 Parent #1 - likely benign g.99381661A>G g.99784038A>G 44T>C (L15P) - CYP3A4_000058 reference haplotype CYP3A4*14 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12721634 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.64C>G r.(?) p.(Leu22Val) CYP3A4*28 Parent #1 - likely benign g.99381641G>C g.99784018G>C 64C>G - CYP3A4_000057 - PubMed: Hu 2017 - - Germline - - - - - DNA SEQ - - - - PubMed: Hu 2017 - - - - - - - - - 1 Julia Lopez
-?/-? 1 c.64C>G r.(?) p.(Leu22Val) CYP3A4*28 Parent #1 - likely benign g.99381641G>C g.99784018G>C 64C>G - CYP3A4_000057 reference haplotype CYP3A4*28 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.167G>A r.(?) p.(Gly56Asp) CYP3A4*7 Parent #1 - likely benign g.99375702C>T g.99778079C>T 6004G>A (G56D) - CYP3A4_000056 - PubMed: Eiselt 2001 - rs56324128 Germline - - - - - DNA SEQ - - - - PubMed: Eiselt 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 3 c.167G>A r.(?) p.(Gly56Asp) CYP3A4*7 Parent #1 - likely benign g.99375702C>T g.99778079C>T 6004G>A (G56D) - CYP3A4_000056 reference haplotype CYP3A4*7 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56324128 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3i c.218+22A>G r.(=) p.(=) CYP3A4*1J Parent #1 - likely benign g.99375629T>C g.99778006T>C 6077A>G - CYP3A4_000055 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 3i c.218+22A>G r.(=) p.(=) CYP3A4*1J Parent #1 - likely benign g.99375629T>C g.99778006T>C 6077A>G - CYP3A4_000055 reference haplotype CYP3A4*1J Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 3i c.218+97G>A r.(=) p.(=) Not Determined Parent #1 - likely benign g.99375554C>T g.99777931C>T 6152G>A - CYP3A4_000054 - PubMed: Solus 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Solus 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 5 c.337T>A r.(?) p.(Phe113Ile) CYP3A4*29 Parent #1 - likely benign g.99367840A>T g.99770217A>T 13856T>A - CYP3A4_000053 - PubMed: Hu 2017 - - Germline - - - - - DNA SEQ - - - - PubMed: Hu 2017 - - - - - - - - - 1 Julia Lopez
-?/-? 5 c.337T>A r.(?) p.(Phe113Ile) CYP3A4*29 Parent #1 - likely benign g.99367840A>T g.99770217A>T 13856T>A - CYP3A4_000053 reference haplotype CYP3A4*29 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 5 c.352A>G r.(?) p.(Ile118Val) CYP3A4*4 Parent #1 - likely benign g.99367825T>C g.99770202T>C 13871A>G (I118V) - CYP3A4_000052 - PubMed: Hsieh 2001 - rs55951658 Germline - - - - - DNA SEQ - - - - PubMed: Hsieh 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 5 c.352A>G r.(?) p.(Ile118Val) CYP3A4*4 Parent #1 - likely benign g.99367825T>C g.99770202T>C 13871A>G (I118V) - CYP3A4_000052 reference haplotype CYP3A4*4 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs55951658 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 5 c.388C>T r.(?) p.(Arg130*) CYP3A4*30 Parent #1 - likely benign g.99367789G>A g.99770166G>A 13907C>T - CYP3A4_000051 - PubMed: Hu 2017 - - Germline - - - - - DNA SEQ - - - - PubMed: Hu 2017 - - - - - - - - - 1 Julia Lopez
-?/-? 5 c.388C>T r.(?) p.(Arg130*) CYP3A4*30 Parent #1 - likely benign g.99367789G>A g.99770166G>A 13907C>T - CYP3A4_000051 reference haplotype CYP3A4*30 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
+/+ 5 c.389G>A r.(?) p.(Arg130Gln) CYP3A4*8 Parent #1 - NA g.99367788C>T g.99770165C>T 13908G>A (R130Q) - CYP3A4_000050 Enzime activity in_vitro: Decrease PubMed: Eiselt 2001 - rs72552799 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.389G>A r.(?) p.(Arg130Gln) CYP3A4*8 Parent #1 - pathogenic g.99367788C>T g.99770165C>T 13908G>A (R130Q) - CYP3A4_000050 reference haplotype CYP3A4*8 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72552799 Germline - - - - - DNA SEQ - - DMBp - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 5i c.433-17T>G r.(=) p.(=) CYP3A4*1N Parent #1 - likely benign g.99367496A>C g.99769873A>C 14200T>G - CYP3A4_000049 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 5i c.433-17T>G r.(=) p.(=) CYP3A4*1N Parent #1 - likely benign g.99367496A>C g.99769873A>C 14200T>G - CYP3A4_000049 reference haplotype CYP3A4*1N Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.484C>T r.(?) p.(Arg162Trp) CYP3A4*23 Parent #1 - likely benign g.99367428G>A g.99769805G>A 14268C>T (R162W  ) - CYP3A4_000048 - PubMed: Drögemöller 2013 - rs57409622 Germline - - - - - DNA SEQ - - - - PubMed: Drögemöller 2013 - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.484C>T r.(?) p.(Arg162Trp) CYP3A4*23 Parent #1 - likely benign g.99367428G>A g.99769805G>A 14268C>T (R162W  ) - CYP3A4_000048 reference haplotype CYP3A4*23 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs57409622 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/. - c.484C>T r.(?) p.(Arg162Trp) - Unknown - likely benign g.99367428G>A - CYP3A4(NM_017460.6):c.484C>T (p.R162W) - CYP3A4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 6 c.485G>A r.(?) p.(Arg162Gln) CYP3A4*15A Parent #1 - likely benign g.99367427C>T g.99769804C>T 14269G>A (R162Q) - CYP3A4_000047 - PubMed: Lamba 2002 - rs4986907 Germline - - - - - DNA SEQ - - - - PubMed: Lamba 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.485G>A r.(?) p.(Arg162Gln) CYP3A4*15B Parent #1 - likely benign g.99367427C>T g.99769804C>T 14269G>A (R162Q) - CYP3A4_000047 - PubMed: Hamzeiy 2002 - rs4986907 Germline - - - - - DNA SEQ - - - - PubMed: Hamzeiy 2002 - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.485G>A r.(?) p.(Arg162Gln) CYP3A4*15A Parent #1 - likely benign g.99367427C>T g.99769804C>T 14269G>A (R162Q) - CYP3A4_000047 reference haplotype CYP3A4*15A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4986907 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.485G>A r.(?) p.(Arg162Gln) CYP3A4*15B Parent #1 - likely benign g.99367427C>T g.99769804C>T 14269G>A (R162Q) - CYP3A4_000047 reference haplotype CYP3A4*15B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4986907 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.508G>A r.(?) p.(Val170Ile) CYP3A4*9 Parent #1 - likely benign g.99367404C>T g.99769781C>T 14292G>A (V170I) - CYP3A4_000046 - PubMed: Eiselt 2001 - rs72552798 Germline - - - - - DNA SEQ - - - - PubMed: Eiselt 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.508G>A r.(?) p.(Val170Ile) CYP3A4*9 Parent #1 - likely benign g.99367404C>T g.99769781C>T 14292G>A (V170I) - CYP3A4_000046 reference haplotype CYP3A4*9 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72552798 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.520G>C r.(?) p.(Asp174His) CYP3A4*10 Parent #1 - likely benign g.99367392C>G g.99769769C>G 14304G>C (D174H) - CYP3A4_000045 - PubMed: Eiselt 2001 - rs4986908 Germline - - - - - DNA SEQ - - - - PubMed: Eiselt 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 6 c.520G>C r.(?) p.(Asp174His) CYP3A4*10 Parent #1 - likely benign g.99367392C>G g.99769769C>G 14304G>C (D174H) - CYP3A4_000045 reference haplotype CYP3A4*10 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4986908 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/. - c.520G>C r.(?) p.(Asp174His) - Unknown - likely benign g.99367392C>G - CYP3A4(NM_017460.6):c.520G>C (p.D174H) - CYP3A4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6i c.522-191C>T r.(=) p.(=) CYP3A4*22 Parent #1 - pathogenic g.99366316G>A g.99768693G>A 15389C>T - CYP3A4_000044 Enzime activity in_vivo: Decrease PubMed: Wang 2011, PubMed: Elens 2011a, PubMed: Elens 2011b - rs35599367 Germline - - - - - DNA SEQ - - DMBp - PubMed: Wang 2011, PubMed: Elens 2011a, PubMed: Elens 2011b - - - - - - - - - 1 Julia Lopez
+/+ 6i c.522-191C>T r.(=) p.(=) CYP3A4*22 Parent #1 - pathogenic g.99366316G>A g.99768693G>A 15389C>T - CYP3A4_000044 reference haplotype CYP3A4*22 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs35599367 Germline - - - - - DNA SEQ - - DMBp - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.526T>G r.(?) p.(Phe176Val) Not Determined Parent #1 - likely benign g.99366121A>C g.99768498A>C 15575T>G (F176V) - CYP3A4_000043 - PubMed: Suman 2009 - - Germline - - - - - DNA SEQ - - - - PubMed: Suman 2009 - - - - - - - - - 1 Julia Lopez
+/+ 7 c.554C>G r.(?) p.(Thr185Ser) CYP3A4*16A Parent #1 - NA g.99366093G>C g.99768470G>C 15603C>G (T185S) - CYP3A4_000042 Enzime activity in_vitro: Decrease PubMed: Lamba 2002, PubMed: Murayama 2002 - rs12721627 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.554C>G r.(?) p.(Thr185Ser) CYP3A4*16B Parent #1 - NA g.99366093G>C g.99768470G>C 15603C>G (T185S) - CYP3A4_000042 Enzime activity in_vitro: Decrease PubMed: Fukushima-Uesaka 2004, PubMed: Murayama 2002 - rs12721627 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.554C>G r.(?) p.(Thr185Ser) CYP3A4*16A Parent #1 - pathogenic g.99366093G>C g.99768470G>C 15603C>G (T185S) - CYP3A4_000042 reference haplotype CYP3A4*16A Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12721627 Germline - - - - - DNA SEQ - - DMBp - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
+/+ 7 c.554C>G r.(?) p.(Thr185Ser) CYP3A4*16B Parent #1 - pathogenic g.99366093G>C g.99768470G>C 15603C>G (T185S) - CYP3A4_000042 reference haplotype CYP3A4*16B Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs12721627 Germline - - - - - DNA SEQ - - DMBp - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
+/+ 7 c.566T>C r.(?) p.(Phe189Ser) CYP3A4*17 Parent #1 - NA g.99366081A>G g.99768458A>G 15615T>C (F189S) - CYP3A4_000041 Enzime activity in_vitro: Decrease PubMed: Dai 2001 - rs4987161 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.566T>C r.(?) p.(Phe189Ser) CYP3A4*17 Parent #1 - pathogenic g.99366081A>G g.99768458A>G 15615T>C (F189S) - CYP3A4_000041 reference haplotype CYP3A4*17 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4987161 Germline - - - - - DNA SEQ - - DMBp - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.600A>T r.(?) p.(Gln200His) CYP3A4*24 Parent #1 - likely benign g.99366047T>A g.99768424T>A 15649A>T (Q200H) - CYP3A4_000040 - PubMed: Drögemöller 2013 - rs113667357 Germline - - - - - DNA SEQ - - - - PubMed: Drögemöller 2013 - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.600A>T r.(?) p.(Gln200His) CYP3A4*24 Parent #1 - likely benign g.99366047T>A g.99768424T>A 15649A>T (Q200H) - CYP3A4_000040 reference haplotype CYP3A4*24 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs113667357 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.653C>G r.(?) p.(Pro218Arg) CYP3A4*5 Parent #1 - likely benign g.99365994G>C g.99768371G>C 15702C>G (P218R) - CYP3A4_000039 - PubMed: Hsieh 2001 - rs55901263 Germline - - - - - DNA SEQ - - - - PubMed: Hsieh 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.653C>G r.(?) p.(Pro218Arg) CYP3A4*5 Parent #1 - likely benign g.99365994G>C g.99768371G>C 15702C>G (P218R) - CYP3A4_000039 reference haplotype CYP3A4*5 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs55901263 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.664T>C r.(?) p.(Ser222Pro) CYP3A4*2 Parent #1 - likely benign g.99365983A>G g.99768360A>G 15713T>C (S222P) - CYP3A4_000038 - PubMed: Sata et al, 2000 - rs55785340 Germline - - - - - DNA SEQ - - - - PubMed: Sata et al, 2000 - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.664T>C r.(?) p.(Ser222Pro) CYP3A4*2 Parent #1 - likely benign g.99365983A>G g.99768360A>G 15713T>C (S222P) - CYP3A4_000038 reference haplotype CYP3A4*2 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs55785340 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7 c.668T>G r.(?) p.(Ile223Arg) Not Determined Parent #1 - likely benign g.99365979A>C g.99768356A>C 15717T>G (I223R) - CYP3A4_000037 - PubMed: Suman 2009 - - Germline - - - - - DNA SEQ - - - - PubMed: Suman 2009 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+8G>A r.(=) p.(=) CYP3A4*1P Parent #1 - likely benign g.99365969C>T g.99768346C>T 15727G>A - CYP3A4_000036 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+8G>A r.(=) p.(=) CYP3A4*1P Parent #1 - likely benign g.99365969C>T g.99768346C>T 15727G>A - CYP3A4_000036 reference haplotype CYP3A4*1P Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+34G r.(=) p.(=) CYP3A4*23 Parent #1 - likely benign g.99365943G - 15753T>G - CYP3A4_000035 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Drögemöller 2013 - - Germline - - - - - DNA SEQ - - - - PubMed: Drögemöller 2013 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+34G r.(=) p.(=) CYP3A4*24 Parent #1 - likely benign g.99365943G - 15753T>G - CYP3A4_000035 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Drögemöller 2013 - - Germline - - - - - DNA SEQ - - - - PubMed: Drögemöller 2013 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+34G r.(=) p.(=) CYP3A4*23 Parent #1 - likely benign g.99365943G - 15753T>G - CYP3A4_000035 reference haplotype CYP3A4*23 / Deduced position / T not found, found G instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+34G r.(=) p.(=) CYP3A4*24 Parent #1 - likely benign g.99365943G - 15753T>G - CYP3A4_000035 reference haplotype CYP3A4*24 / Deduced position / T not found, found G instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+90T>C r.(=) p.(=) CYP3A4*1Q Parent #1 - likely benign g.99365887A>G g.99768264A>G 15809T>C - CYP3A4_000034 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+90T>C r.(=) p.(=) CYP3A4*1Q Parent #1 - likely benign g.99365887A>G g.99768264A>G 15809T>C - CYP3A4_000034 reference haplotype CYP3A4*1Q Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+118T>A r.(=) p.(=) Not Determined Parent #1 - likely benign g.99365859A>T g.99768236A>T 15837T>A - CYP3A4_000033 - PubMed: Solus 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Solus 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+258T r.(=) p.(=) CYP3A4*28 Parent #1 - likely benign g.99365719T - 15977C>T - CYP3A4_000032 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Hu 2017 - - Germline - - - - - DNA SEQ - - - - PubMed: Hu 2017 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+258T r.(=) p.(=) CYP3A4*30 Parent #1 - likely benign g.99365719T - 15977C>T - CYP3A4_000032 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Hu 2017 - - Germline - - - - - DNA SEQ - - - - PubMed: Hu 2017 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+258T r.(=) p.(=) CYP3A4*34 Parent #1 - likely benign g.99365719T - 15977C>T - CYP3A4_000032 Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. PubMed: Hu 2017 - - Germline - - - - - DNA SEQ - - - - PubMed: Hu 2017 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+258T r.(=) p.(=) CYP3A4*28 Parent #1 - likely benign g.99365719T - 15977C>T - CYP3A4_000032 reference haplotype CYP3A4*28 / Deduced position / C not found, found T instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+258T r.(=) p.(=) CYP3A4*30 Parent #1 - likely benign g.99365719T - 15977C>T - CYP3A4_000032 reference haplotype CYP3A4*30 / Deduced position / C not found, found T instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.670+258T r.(=) p.(=) CYP3A4*34 Parent #1 - likely benign g.99365719T - 15977C>T - CYP3A4_000032 reference haplotype CYP3A4*34 / Deduced position / C not found, found T instead. Variant Error [ESYNTAX]: This genomic variant has an error (char 25: end of input). Please fix this entry and then remove this message. Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.671-40A>G r.(=) p.(=) CYP3A4*1R Parent #1 - likely benign g.99364921T>C g.99767298T>C 16775A>G - CYP3A4_000031 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 7i c.671-40A>G r.(=) p.(=) CYP3A4*1R Parent #1 - likely benign g.99364921T>C g.99767298T>C 16775A>G - CYP3A4_000031 reference haplotype CYP3A4*1R Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 8i c.798+186T>G r.(=) p.(=) Not Determined Parent #1 - likely benign g.99364568A>C g.99766945A>C 17128T>G - CYP3A4_000030 - PubMed: Solus 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Solus 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 8i c.798+244C>T r.(=) p.(=) Not Determined Parent #1 - likely benign g.99364510G>A g.99766887G>A 17186C>T - CYP3A4_000029 - PubMed: Solus 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Solus 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 8i c.799-338C>T r.(=) p.(=) Not Determined Parent #1 - likely benign g.99364404G>A g.99766781G>A 17292C>T - CYP3A4_000028 - PubMed: Solus 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Solus 2004 - - - - - - - - - 1 Julia Lopez
+/+ 9 c.802C>T r.(?) p.(Arg268*) CYP3A4*26 Parent #1 - NA g.99364063G>A g.99766440G>A 17633C>T (R268Stop) - CYP3A4_000027 Enzime activity in_vitro: None PubMed: Werk 2014 - rs138105638 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.802C>T r.(?) p.(Arg268*) CYP3A4*26 Parent #1 - pathogenic g.99364063G>A g.99766440G>A 17633C>T (R268Stop) - CYP3A4_000027 reference haplotype CYP3A4*26 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs138105638 Germline - - - - - DNA SEQ - - DMBp - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 9 c.830dup r.(?) p.(Asp277Glufs*9) CYP3A4*6 Parent #1 - likely benign g.99364035dup g.99766412dup 17661_176622insA (277Frameshift) - CYP3A4_000026 - PubMed: Hsieh 2001 - rs4646438 Germline - - - - - DNA SEQ - - - - PubMed: Hsieh 2001 - - - - - - - - - 1 Julia Lopez
-?/-? 9 c.830dup r.(?) p.(Asp277Glufs*9) CYP3A4*6 Parent #1 - likely benign g.99364035dup g.99766412dup 17661_176622insA (277Frameshift) - CYP3A4_000026 reference haplotype CYP3A4*6 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs4646438 Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
-?/-? 9i c.865+119_865+120del r.(=) p.(=) CYP3A4*1S Parent #1 - likely benign g.99363880_99363881del g.99766257_99766258del 17815_17816delAT - CYP3A4_000025 - PubMed: Fukushima-Uesaka 2004 - - Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
-?/-? 9i c.865+119_865+120del r.(=) p.(=) CYP3A4*1S Parent #1 - likely benign g.99363880_99363881del g.99766257_99766258del 17815_17816delAT - CYP3A4_000025 reference haplotype CYP3A4*1S Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - DNA SEQ - - - - Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - - - - - - - - 1 Julia Lopez
+/+ 10 c.878T>C r.(?) p.(Leu293Pro) CYP3A4*18A Parent #1 - pathogenic g.99361626A>G g.99764003A>G 20070T>C (L293P) - CYP3A4_000024 Enzime activity in_vivo: Decrease  (m) PubMed: Dai 2001PubMed: Kang 2008 - rs28371759 Germline - - - - - DNA SEQ - - DMBp - PubMed: Dai 2001PubMed: Kang 2008 - - - - - - - - - 1 Julia Lopez
+/+ 10 c.878T>C r.(?) p.(Leu293Pro) CYP3A4*18A Parent #1 - NA g.99361626A>G g.99764003A>G 20070T>C (L293P) - CYP3A4_000024 Enzime activity in_vitro: Increase  (t, c, e) PubMed: Dai 2001PubMed: Kang 2008 - rs28371759 In vitro (cloned) - - - - - DNA SEQ - - DMBp - PubMed: Dai 2001PubMed: Kang 2008 - - - - - - - - - 1 Julia Lopez
-?/-? 10 c.878T>C r.(?) p.(Leu293Pro) CYP3A4*18B Parent #1 - likely benign g.99361626A>G g.99764003A>G 20070T>C (L293P) - CYP3A4_000024 - PubMed: Fukushima-Uesaka 2004 - rs28371759 Germline - - - - - DNA SEQ - - - - PubMed: Fukushima-Uesaka 2004 - - - - - - - - - 1 Julia Lopez
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.