All variants in the POR gene

Information The variants shown are described using the NM_000941.2 transcript reference sequence.

290 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

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     

Owner     
-/. - c.-47A>C - r.(?) p.(=) - benign g.75544455A>C g.75915137A>C - - POR_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1i_13i c.(-5+1_-4-1)_(1669+1_1670-1)del POR*41 r.spl? p.? - pathogenic g.(75544498_75583306)_(75615168_75615240)del - deletion exons 2-13 - POR_000070 reference haplotype POR*41 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 1i_13i c.(-5+1_-4-1)_(1669+1_1670-1)del POR*41 r.spl? p.? - pathogenic g.(75544498_75583306)_(75615168_75615240)del - - - POR_000070 - PubMed: Fukami 2009 - - Germline - - - - - Johan den Dunnen
-/- _1_16_ c.= POR*1 r.= p.= - benign g.= - - - POR_000000 reference haplotype POR*1 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline yes - - - - Sarah C Sim
-/. - c.15A>G - r.(?) p.(=) - benign g.75583325A>G - POR(NM_000941.2):c.15A>G (p.G5=) - POR_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.73C>T - r.(?) p.(Leu25Phe) - likely benign g.75583383C>T g.75954065C>T POR(NM_000941.2):c.73C>T (p.(Leu25Phe)) - POR_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.86C>T - r.(?) p.(Thr29Met) - VUS g.75583396C>T g.75954078C>T T29M - POR_000071 - PubMed: Saito 2011 - - Germline - - - - - Johan den Dunnen
+/. 2 c.143del POR*38 r.(?) p.(Arg48Lysfs*16) - pathogenic g.75583453del g.75954135del 143delG, 381443delG - POR_000072 reference haplotype POR*38 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 2 c.143del POR*38 r.(?) p.(Arg48Lysfs*16) - pathogenic g.75583453del g.75954135del - - POR_000072 - PubMed: Fukami 2009 - - Germline - - - - - Johan den Dunnen
?/. 2 c.147G>C POR*25 r.(?) p.(Lys49Asn) - VUS g.75583457G>C g.75954139G>C 147G>C - POR_000073 reference haplotype POR*25 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs56355228 Germline - - - - - Sarah C Sim
?/. 2 c.147G>C POR*25 r.(?) p.(Lys49Asn) - VUS g.75583457G>C g.75954139G>C - - POR_000073 - PubMed: Hart 2007 - rs56355228 Germline - - - - - Johan den Dunnen
?/. 2 c.158_160del - r.(?) p.(Glu53del) - VUS g.75583468_75583470del g.75954150_75954152del E53del - POR_000074 - PubMed: Huang 2008 - - Germline - - - - - Johan den Dunnen
?/. - c.158_160del - r.(?) p.(Glu53del) - VUS g.75583468_75583470del g.75954150_75954152del POR(NM_000941.2):c.158_160delAAG (p.E53del) - POR_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.164C>T - r.(?) p.(Pro55Leu) - VUS g.75583474C>T g.75954156C>T P55L - POR_000075 - PubMed: Huang 2008 - - Germline - - - - - Johan den Dunnen
?/. 3i c.237+88G>A POR*36 r.(=) p.(=) - VUS g.75601867G>A g.75972549G>A 237G>A, 18557G>A - POR_000069 reference haplotype POR*36 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 3i c.237+88G>A POR*36 r.(=) p.(=) - VUS g.75601867G>A g.75972549G>A - - POR_000069 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
?/. - c.272C>T - r.(?) p.(Thr91Met) - VUS g.75608803C>T g.75979485C>T POR(NM_000941.2):c.272C>T (p.T91M) - POR_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.273G>A - r.(?) p.(Thr91=) - likely benign g.75608804G>A - POR(NM_000941.2):c.273G>A (p.T91=) - POR_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 4 c.304T>C POR*44 r.(?) p.(Ser102Pro) - VUS g.75608835T>C g.75979517T>C 69416T>C - POR_000055 reference haplotype POR*44 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 4 c.304T>C POR*44 r.(?) p.(Ser102Pro) - VUS g.75608835T>C g.75979517T>C - - POR_000055 - PubMed: Tomkova 2012 - - Germline - - - - - Johan den Dunnen
?/. - c.313G>A - r.(?) p.(Ala105Thr) - VUS g.75608844G>A - POR(NM_000941.2):c.313G>A (p.(Ala105Thr)) - POR_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.319C>T - r.(?) p.(Arg107Cys) - VUS g.75608850C>T - POR(NM_001382655.1):c.373C>T (p.(Arg125Cys)) - POR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.325G>A - r.(?) p.(Gly109Arg) - VUS g.75608856G>A - POR(NM_001382655.1):c.379G>A (p.(Gly127Arg)) - POR_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4 c.344C>T POR*11 r.(?) p.(Ala115Val) - pathogenic g.75608875C>T g.75979557C>T 25565C>T - POR_000056 reference haplotype POR*11 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 4 c.344C>T POR*11 r.(?) p.(Ala115Val) - pathogenic g.75608875C>T g.75979557C>T - - POR_000056 - PubMed: Huang 2005 - - Germline - - - - - Johan den Dunnen
+?/. 4 c.344C>T - r.(?) p.(Ala115Val) - NA g.75608875C>T g.75979557C>T A115V - POR_000056 cDNA expression cloning in bacteria showed cytochrome C reduction 0.63, NADPH oxidation 0.41 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+?/. 4 c.344C>T - r.(?) p.(Ala115Val) - NA g.75608875C>T g.75979557C>T A115V - POR_000056 in vitro assay showed 17a-hydroxylase activity support 0.80, 17,20-lyase (P450c17) support 0.71 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. - c.344C>T - r.(?) p.(Ala115Val) - VUS g.75608875C>T - POR(NM_000941.2):c.344C>T (p.A115V), POR(NM_001382655.1):c.398C>T (p.(Ala133Val)) - POR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.344C>T - r.(?) p.(Ala115Val) - VUS g.75608875C>T - POR(NM_000941.2):c.344C>T (p.A115V), POR(NM_001382655.1):c.398C>T (p.(Ala133Val)) - POR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 4i c.366+136C>T POR*36 r.(=) p.(=) - VUS g.75609033C>T g.75979715C>T 366C>T, 25723C>T - POR_000057 reference haplotype POR*36 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 4i c.366+136C>T POR*36 r.(=) p.(=) - VUS g.75609033C>T g.75979715C>T - - POR_000057 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
-/. - c.369C>T - r.(?) p.(Ala123=) - benign g.75609659C>T g.75980341C>T POR(NM_000941.2):c.369C>T (p.A123=, p.(=)) - POR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.369C>T - r.(?) p.(Ala123=) - likely benign g.75609659C>T - POR(NM_000941.2):c.369C>T (p.A123=, p.(=)) - POR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 5 c.387A>G POR*42 r.(=) p.(=) - VUS g.75609677A>G g.75980359A>G 26367G>A - POR_000058 reference haplotype POR*42 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 5 c.387A>G POR*43 r.(=) p.(=) - VUS g.75609677A>G g.75980359A>G 26367G>A - POR_000058 reference haplotype POR*43 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 5 c.387A>G POR*42 r.(=) p.(=) - VUS g.75609677A>G g.75980359A>G - - POR_000058 - PubMed: Saito 2011 - - Germline - - - - - Johan den Dunnen
?/. 5 c.387A>G POR*43 r.(=) p.(=) - VUS g.75609677A>G g.75980359A>G - - POR_000058 - PubMed: Saito 2011 - - Germline - - - - - Johan den Dunnen
-/. - c.387A>G - r.(?) p.(Pro129=) - benign g.75609677A>G g.75980359A>G POR(NM_001382658.3):c.378A>G (p.P126=) - POR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.387A>G - r.(?) p.(Pro129=) - benign g.75609677A>G g.75980359A>G POR(NM_001382658.3):c.378A>G (p.P126=) - POR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.399C>T - r.(?) p.(Asn133=) - likely benign g.75609689C>T - POR(NM_000941.2):c.399C>T (p.N133=) - POR_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.409G>T - r.(?) p.(Val137Phe) - VUS g.75609699G>T g.75980381G>T POR(NM_000941.2):c.409G>T (p.V137F) - POR_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 5 c.424A>G POR*12 r.(?) p.(Thr142Ala) - pathogenic g.75609714A>G g.75980396A>G 26404A>G - POR_000059 reference haplotype POR*12 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 5 c.424A>G POR*12 r.(?) p.(Thr142Ala) - pathogenic g.75609714A>G g.75980396A>G - - POR_000059 - PubMed: Huang 2005 - - Germline - - - - - Johan den Dunnen
+?/. 5 c.424A>G - r.(?) p.(Thr142Ala) - NA g.75609714A>G g.75980396A>G T142A - POR_000059 cDNA expression cloning in bacteria showed cytochrome C reduction 0.49, NADPH oxidation 0.52 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+?/. 5 c.424A>G - r.(?) p.(Thr142Ala) - NA g.75609714A>G g.75980396A>G T142A - POR_000059 in vitro assay showed 17a-hydroxylase activity support 0.60, 17,20-lyase (P450c17) support 0.54 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 5 c.458A>G POR*13 r.(?) p.(Gln153Arg) - pathogenic g.75609748A>G g.75980430A>G 26438A>G - POR_000060 reference haplotype POR*13 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 5 c.458A>G POR*13 r.(?) p.(Gln153Arg) - pathogenic g.75609748A>G g.75980430A>G - - POR_000060 - PubMed: Huang 2005, PubMed: Sandee 2010 - - Germline - - - - - Johan den Dunnen
+/. 5 c.458A>G - r.(?) p.(Gln153Arg) - NA g.75609748A>G g.75980430A>G Q153R - POR_000060 cDNA expression cloning in bacteria showed cytochrome C reduction 0.09, NADPH oxidation 0.11 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 5 c.458A>G - r.(?) p.(Gln153Arg) - NA g.75609748A>G g.75980430A>G Q153R - POR_000060 in vitro assay showed 17a-hydroxylase activity support 0.31, 17,20-lyase (P450c17) support 0.27 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. 5 c.490G>A POR*45 r.(?) p.(Val164Met) - VUS g.75609780G>A g.75980462G>A 70361G>A - POR_000061 reference haplotype POR*45 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 5 c.490G>A POR*45 r.(?) p.(Val164Met) - VUS g.75609780G>A g.75980462G>A - - POR_000061 - PubMed: Tomkova 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.492G>A - r.(?) p.(Val164=) - likely benign g.75609782G>A - POR(NM_000941.2):c.492G>A (p.V164=) - POR_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.517-4G>A - r.spl? p.? - likely benign g.75610362G>A g.75981044G>A POR(NM_000941.2):c.517-4G>A (p.?) - POR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 6 c.541T>G POR*8 r.(?) p.(Tyr181Asp) - pathogenic g.75610390T>G g.75981072T>G 27080T>G - POR_000062 reference haplotype POR*8 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - rs72552771 Germline - - - - - Sarah C Sim
+/. 6 c.541T>G POR*8 r.(?) p.(Tyr181Asp) - pathogenic g.75610390T>G g.75981072T>G - - POR_000062 - PubMed: Arlt 2004 - rs72552771 Germline - - - - - Johan den Dunnen
+/. 6 c.541T>G - r.(?) p.(Tyr181Asp) - NA g.75610390T>G g.75981072T>G Y181D - POR_000062 cDNA expression cloning in bacteria showed defective cytochrome C reduction/NADPH oxidation PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 6 c.541T>G - r.(?) p.(Tyr181Asp) - NA g.75610390T>G g.75981072T>G Y181D - POR_000062 in vitro assay showed defective 17a-hydroxylase/17,20-lyase (P450c17) activity support PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 6 c.568_580dup POR*20 r.(?) p.(Arg194Leufs*16) - pathogenic g.75610417_75610429dup g.75981099_75981111dup 580_581insTACGTGGACAAGC, 27119_27120insTACGTGGACAAGC - POR_000063 reference haplotype POR*20 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 6 c.568_580dup POR*20 r.(?) p.(Arg194Leufs*16) - pathogenic g.75610417_75610429dup g.75981099_75981111dup - - POR_000063 - PubMed: Huang 2005 - - Germline - - - - - Johan den Dunnen
+/. 6 c.568_580dup - r.(?) p.(Arg194Leufs*16) - pathogenic g.75610417_75610429dup g.75981099_75981111dup 580-581insTACGTGGACAAGC - POR_000063 - PubMed: Huang 2005 - - Germline - - - - - Johan den Dunnen
?/. 6 c.571G>A POR*46 r.(?) p.(Val191Met) - VUS g.75610420G>A g.75981102G>A 71001G>A - POR_000065 reference haplotype POR*46 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 6 c.571G>A POR*46 r.(?) p.(Val191Met) - VUS g.75610420G>A g.75981102G>A - - POR_000065 - PubMed: Tomkova 2012 - - Germline - - - - - Johan den Dunnen
?/. 6 c.571G>C POR*29 r.(?) p.(Val191Leu) - VUS g.75610420G>C g.75981102G>C 27110G>C - POR_000064 reference haplotype POR*29 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 6 c.571G>C POR*29 r.(?) p.(Val191Leu) - VUS g.75610420G>C g.75981102G>C - - POR_000064 - PubMed: Haiman 2007 - - Germline - - - - - Johan den Dunnen
+/. 6 c.601C>T POR*31 r.(?) p.(Gln201*) - pathogenic g.75610450C>T g.75981132C>T 27140C>T - POR_000066 reference haplotype POR*31 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 6 c.601C>T POR*31 r.(?) p.(Gln201*) - pathogenic g.75610450C>T g.75981132C>T - - POR_000066 - PubMed: Homma 2006 - - Germline - - - - - Johan den Dunnen
?/. 6 c.631G>A - r.(?) p.(Asp211Asn) - VUS g.75610480G>A g.75981162G>A D211N - POR_000067 - PubMed: Huang 2008 - - Germline - - - - - Johan den Dunnen
?/. - c.631G>A - r.(?) p.(Asp211Asn) - VUS g.75610480G>A - POR(NM_001382655.1):c.685G>A (p.(Asp229Asn)) - POR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 6 c.638G>A - r.(?) p.(Gly213Glu) - VUS g.75610487G>A g.75981169G>A G213E - POR_000068 - PubMed: Huang 2008 - - Germline - - - - - Johan den Dunnen
?/. - c.640A>G - r.(?) p.(Asn214Asp) - VUS g.75610489A>G - POR(NM_000941.2):c.640A>G (p.(Asn214Asp)) - POR_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.642-5C>G - r.spl? p.? - likely benign g.75610830C>G - POR(NM_000941.2):c.642-5C>G - POR_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.667C>T - r.(?) p.(Arg223Ter) - pathogenic g.75610860C>T g.75981542C>T - - POR_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.668G>A - r.(?) p.(Arg223Gln) - VUS g.75610861G>A - POR(NM_001382655.1):c.722G>A (p.(Arg241Gln)) - POR_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 7 c.683C>T POR*36 r.(?) p.(Pro228Leu) - VUS g.75610876C>T g.75981558C>T 27566C>T - POR_000040 reference haplotype POR*36 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 7 c.683C>T POR*36 r.(?) p.(Pro228Leu) - VUS g.75610876C>T g.75981558C>T - - POR_000040 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
-?/. 7 c.683C>T - r.(?) p.(Pro228Leu) - NA g.75610876C>T g.75981558C>T P228L - POR_000040 cDNA expression cloning in bacteria showed cytochrome C reduction 0.75, NADPH oxidation 0.72 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
-?/. 7 c.683C>T - r.(?) p.(Pro228Leu) - NA g.75610876C>T g.75981558C>T P228L - POR_000040 in vitro assay showed 17a-hydroxylase activity support 1.00, 17,20-lyase (P450c17) support 0.41 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. - c.683C>T - r.(?) p.(Pro228Leu) - VUS g.75610876C>T g.75981558C>T POR(NM_000941.2):c.683C>T (p.(Pro228Leu)), POR(NM_001367562.1):c.683C>T (p.P228L) - POR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.683C>T - r.(?) p.(Pro228Leu) - likely benign g.75610876C>T - POR(NM_000941.2):c.683C>T (p.(Pro228Leu)), POR(NM_001367562.1):c.683C>T (p.P228L) - POR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.687C>T - r.(?) p.(Ala229=) - likely benign g.75610880C>T g.75981562C>T POR(NM_001367562.1):c.687C>T (p.A229=) - POR_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7i c.731+1G>A POR*3 r.spl? p.? - pathogenic g.75610925G>A g.75981607G>A 27615G>A - POR_000041 reference haplotype POR*3 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 7i c.731+1G>A POR*3 r.spl? p.? - pathogenic g.75610925G>A g.75981607G>A - - POR_000041 - PubMed: Fluck 2004 - - Germline - - - - - Johan den Dunnen
-?/. - c.752T>C - r.(?) p.(Val251Ala) - likely benign g.75611562T>C - POR(NM_000941.2):c.752T>C (p.(Val251Ala)) - POR_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.764A>G - r.(?) p.(Asp255Gly) - VUS g.75611574A>G - POR(NM_000941.2):c.764A>G (p.(Asp255Gly)) - POR_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 8 c.787A>G POR*14 r.(?) p.(Met263Val) - pathogenic g.75611597A>G g.75982279A>G 28287A>G - POR_000042 reference haplotype POR*14 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
+/. 8 c.787A>G POR*14 r.(?) p.(Met263Val) - pathogenic g.75611597A>G g.75982279A>G - - POR_000042 - PubMed: Huang 2005 - - Germline - - - - - Johan den Dunnen
+?/. 8 c.787A>G - r.(?) p.(Met263Val) - NA g.75611597A>G g.75982279A>G M263V - POR_000042 cDNA expression cloning in bacteria showed cytochrome C reduction 0.76, NADPH oxidation 0.57 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 8 c.787A>G - r.(?) p.(Met263Val) - NA g.75611597A>G g.75982279A>G M263V - POR_000042 in vitro assay showed 17a-hydroxylase activity support 0.09, 17,20-lyase (P450c17) support 0.13 PubMed: Huang 2005 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. - c.803G>A - r.(?) p.(Arg268Gln) - VUS g.75611613G>A - POR(NM_000941.2):c.803G>A (p.R268Q) - POR_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.813C>A - r.(?) p.(Ser271Arg) - VUS g.75611623C>A g.75982305C>A POR(NM_000941.2):c.813C>A (p.S271R) - POR_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.817G>A - r.(?) p.(Glu273Lys) - VUS g.75611627G>A - POR(NM_000941.2):c.817G>A (p.E273K) - POR_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.824A>G - r.(?) p.(Gln275Arg) - VUS g.75611634A>G - POR(NM_001367562.1):c.824A>G (p.Q275R) - POR_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 8i c.830+116C>T POR*36 r.(=) p.(=) - VUS g.75611756C>T g.75982438C>T 830C>T, 28446C>T - POR_000043 reference haplotype POR*36 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 8i c.830+116C>T POR*37 r.(=) p.(=) - VUS g.75611756C>T g.75982438C>T 830C>T, 28446C>T - POR_000043 reference haplotype POR*37 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 8i c.830+116C>T POR*36 r.(=) p.(=) - VUS g.75611756C>T g.75982438C>T - - POR_000043 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
?/. 8i c.830+116C>T POR*37 r.(=) p.(=) - VUS g.75611756C>T g.75982438C>T - - POR_000043 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
?/. 8i c.831-35C>T POR*36 r.(=) p.(=) - VUS g.75612803C>T g.75983485C>T 830C>T, 28446C>T - POR_000044 reference haplotype POR*36 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 8i c.831-35C>T POR*37 r.(=) p.(=) - VUS g.75612803C>T g.75983485C>T 830C>T, 28446C>T - POR_000044 reference haplotype POR*37 Reference haplotype - Human P450 (CYP) Allele Nomenclature Committee - - Germline - - - - - Sarah C Sim
?/. 8i c.831-35C>T POR*36 r.(=) p.(=) - VUS g.75612803C>T g.75983485C>T - - POR_000044 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
?/. 8i c.831-35C>T POR*37 r.(=) p.(=) - VUS g.75612803C>T g.75983485C>T - - POR_000044 - PubMed: Gomes 2009 - - Germline - - - - - Johan den Dunnen
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