Full data view for gene HTR3A

University of Heidelberg Serotonin receptor variant database
Information The variants shown are described using the NM_000869.5 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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AscendingDNA change (cDNA)     

RNA change     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

Reference     

Remarks     

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+?/? _1 c.-489A>G r.(?) p.(=) - Unknown - association g.113845541A>G g.113974819A>G -507A>G, -233-u256A>G - HTR3A_000001 - PubMed: Windemuth 2008 - rs1150226 Germline - 0.15 - 0 - DNA arraySNP blood - ? - PubMed: Windemuth 2008 Neuroimaging (PET/fMRI) - - United States white - 0 - - 1 Louise Amlie-Wolf
?/? _1 c.-489A>G r.(?) p.(=) - Unknown - VUS g.113845541A>G - - - HTR3A_000022 - PubMed: Ducci 2009 - rs1150226 Germline - 0.04-0.06 - 0 - DNA arraySNP blood Illumina Golden Gate Assay Healthy/Control - PubMed: Ducci 2009 - - - United States;Finland white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.-112_-109dup r.(?) p.(=) - Unknown - likely benign g.113845918_113845921dup g.113975196_113975199dup c.-130_-129insGAAA - HTR3A_000002 - PubMed: Hammer 2009 - - Germline - 0.008 (0.002-0.023) - 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-111_-110del r.(?) p.(=) - Unknown - VUS g.113845919_113845920del g.113975197_113975198del c.-130_-129del - HTR3A_000003 - PubMed: Kaiser 2004 - - Germline - 0.008 +BpuEI,SmlI / -BspCNI,DdeI,Hpy188I,HpyAV 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Pharmacogenetic study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.-24T>C r.(?) p.(=) - Unknown - likely benign g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Kaiser 2004 - rs1062613 Germline - 33.9 % -Hpy188III 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Case Control Study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
+?/? 1 c.-24T>C r.(?) p.(=) - Unknown - association g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Hammer 2009 - rs1062613 Germline - 0.186 (0.149-0.229) -Hpy188III 0 - DNA SEQ blood - ? - PubMed: Hammer 2009 Case Control Study - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
+?/+? 1 c.-24T>C r.(?) p.(=) - Unknown - association g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Niesler 2001a - rs1062613 Germline - 68/312 BP (35/312 Controls) -Hpy188III 0 - DNA SSCA blood - ? - PubMed: Niesler 2001a Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.-24T>C r.(?) p.(=) - Unknown - likely benign g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Melke 2003 - rs1062613 Germline - 134/366 -Hpy188III 0 - DNA PCRdig, SEQp blood Restriction Digestion Analysis AciI/PyroSEQ Healthy/Control - PubMed: Melke 2003 Case Control Study (Controls Harm Avoidance in women) - - Sweden white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Kilpatrick 2011 - rs1062613 Germline - 0.27 -Hpy188III 0 - DNA PCR blood KASP ? - PubMed: Kilpatrick 2011 Neuroimaging (PET/fMRI) (IBS) - - United States white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.-24T>C r.(?) p.(=) - Unknown - likely benign g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Frank 2004 - rs1062613 Germline - 16/96 FM (35/312 Controls) -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study, tested for Fibromyalgia - - Germany white - 0 - - 1 Louise Amlie-Wolf
+?/? 1 c.-24T>C r.(?) p.(=) - Unknown - association g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - deVires 2007 (Meeting Abstract) - rs1062613 Germline - 0.19 -Hpy188III 0 - DNA SEQ blood - ? - deVires 2007 (Meeting Abstract) Case Control Study - - Netherlands white - 0 - - 1 Louise Amlie-Wolf
-?/-? 1 c.-24T>C r.(?) p.(=) - Unknown - likely benign g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Niesler 2005 - rs1062613 Germline - 10/48 GTS; 26/151 Controls -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2005 Case Control Study, tested for Gilles de la Tourette syndrome - - Germany white - 0 - - 1 Louise Amlie-Wolf
+?/? 1 c.-24T>C r.(?) p.(=) - Unknown - association g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 regulatory region in 5'UTR affected:2-3 times increased expression on protein level PubMed: Kapeller 2008 - rs1062613 Germline - 0.150 (0.104-0.207) -Hpy188III 0 - DNA SEQ blood - ? - PubMed: Kapeller 2008 Case Control Study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
+?/+? 1 c.-24T>C r.(?) p.(=) - Unknown - association g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Niesler 2001a - rs1062613 Germline - 27/148 SZ -Hpy188III 0 - DNA SSCA blood - ? - PubMed: Niesler 2001a Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Lehmann 2013 - rs1062613 Germline - - -Hpy188III 0 - DNA TaqMan blood - Healthy/Control - PubMed: Lehmann 2013 pharmacogenetic study, controls > preganant women: NVP - - United States - - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Rajkumar 2012 - rs1062613 Germline - 0.08 -Hpy188III 0 - DNA SEQ blood - ? - PubMed: Rajkumar 2012 Pharmacogenetic study - - India Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Gu 2015 - rs1062613 Germline - 0.33 cases, 0.21 controls -Hpy188III 0 - DNA PCRdig blood - ? - PubMed: Gu 2015 Case control study - - China Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Kato 2006 - rs1062613 Germline - 0.12 -Hpy188III 0 - DNA PCRdig blood - ? - PubMed: Kato 2006 Pharmacogenetic study - - Japan Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Hammer 2012 - rs1062613 Germline - 0.17-0.22 -Hpy188III 0 - DNA arraySNP blood iPlex Gold Assay ? - PubMed: Hammer 2012 Case Control Study - - Poland white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 regulatory region in 5'UTR affected:2-3 times increased expression on protein level PubMed: Jajodia 2015 - rs1062613 Germline - - -Hpy188III 0 - DNA arraySNP blood Illumina platform ? - PubMed: Jajodia 2015 Case Control Study - - India Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Zhang 2013 - rs1062613 Germline - - -Hpy188III 0 - DNA PCR blood - ? - PubMed: Zhang 2013 Case control study - - China Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Sugai 2006 - rs1062613 Germline - 0.35 -Hpy188III 0 - DNA SEQ blood - ? - PubMed: Sugai 2006 Pharmacogenetic study, psychiatric patients - - Japan Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Mujakovic 2011 - rs1062613 Germline - 0.22 -Hpy188III 0 - DNA PCR blood Molecular Beacon Assays iCycler ? - PubMed: Mujakovic 2011 Case Control Study - - Netherlands white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Gatt 2010 - rs1062613 Germline - 0.24 -Hpy188III 0 - DNA MS blood Sequenom MassArray Healthy/Control - PubMed: Gatt 2010 Brain Imaging, negative mood symptoms - - Australia white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.-24T>C r.(?) p.(=) - Unknown - VUS g.113846006T>C g.113975284T>C c.-42C>T; (178 C>T, C178T) - HTR3A_000004 - PubMed: Gatt 2010 - rs1062613 Germline - 0.24 -Hpy188III 0 - DNA MS blood Sequenom MassArray Healthy/Control - PubMed: Gatt 2010 risk of depression - - Australia white - 0 - - 1 Louise Amlie-Wolf
-?/-? 1 c.-7C>T r.(?) p.(=) - Unknown - likely benign g.113846023C>T g.113975301C>T c.-25C>T; (195 C>T, C195T) - HTR3A_000004 - PubMed: Niesler 2001a - rs62625041 Germline - 2/312 BP (1/312 Controls) -MslI 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001a Case Control Study, tested for Bipolar affective disorder - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 8 c.(1060_1062) r.(?) p.(Leu354=) LIL Unknown - likely benign g.(113857672_113857674)? - c.? (L354L) - HTR3A_000017 - PubMed: Kaiser 2004 - - Germline - 0.004 (242 analysed) - 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Pharmacogenetic study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 7 c.? r.(?) p.? N-Term Unknown - likely benign g.? - c.?, p.M257I - HTR3A_000014 - PubMed: Kaiser 2004 - - Germline - 3.0%/242 - 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Pharmacogenetic study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.48C>T r.(?) p.(Leu16=) N-Term Unknown - likely benign g.113846077C>T g.113975355C>T c.30C>T , p.L10L; (249C>T,C249T) - HTR3A_000005 - PubMed: Hammer 2009 - rs33940208 Germline - 0.026 (0.013-0.048) - 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain - - 0 - - 1 Louise Amlie-Wolf
-?/-? 1 c.48C>T r.(?) p.(Leu16=) N-Term Unknown - likely benign g.113846077C>T g.113975355C>T c.30C>T, p.L10L; (249C>T,C249T) - HTR3A_000005 - PubMed: Niesler 2001b - rs33940208 Germline - 4/312 BP( 5/312 Controls. 2/150 SZ ) - 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Bipolar affective disorder - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.48C>T r.(?) p.(Leu16=) N-Term Unknown - likely benign g.113846077C>T g.113975355C>T c.30C>T , p.L10L; (249C>T,C249T) - HTR3A_000005 - PubMed: Kaiser 2004 - rs33940208 Germline - 2/96 FM (5/312 Controls) - 0 - DNA SEQ blood - Healthy/Control - PubMed: Kaiser 2004 Case Control Study, tested for Bipolar affective disorder - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.48C>T r.(?) p.(Leu16=) N-Term Unknown - VUS g.113846077C>T g.113975355C>T rs33940208 ; p.Leu16Leu - HTR3A_000005 - PubMed: Joy Lin 2014 - rs33940208 Germline - 0.26 - 0 - DNA TaqMan blood - ? - PubMed: Joy Lin 2014 Pharmacogenetic study - - Taiwan Asian - 0 - - 1 Louise Amlie-Wolf
?/? 1 c.48C>T r.(?) p.(Leu16=) N-Term Unknown - VUS g.113846077C>T g.113975355C>T rs33940208: NC_000011.10:g.113975355C>T, NC_000011.9:g.113846077C>T+ p.Leu16= - HTR3A_000005 - PubMed: Seneviratne 2013 - rs33940208 Germline - - - 0 - DNA TaqMan blood - ? - PubMed: Seneviratne 2013 Pharmacogenetic study - - United States white - 0 - - 1 Louise Amlie-Wolf
-?/? 1 c.50C>T r.(?) p.(Ala17Val) N-Term Unknown - likely benign g.113846079C>T g.113975357C>T c.32C>T , p.A11V - HTR3A_000006 - PubMed: Hammer 2009 - - Germline - 0.000 (0.000-0.010) - 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain - - 0 - - 1 Louise Amlie-Wolf
?/? 1i c.86-220A>T r.(?) p.(=) - Unknown - VUS g.113848273A>T g.113977551A>T - - HTR3A_000023 - PubMed: Joy Lin 2014 - rs1985242 Germline - 0.42 - 0 - DNA TaqMan blood - ? - PubMed: Joy Lin 2014 Pharmacogenetic study - - Taiwan Asian - 0 - - 1 Louise Amlie-Wolf
-?/? 2 c.115G>A r.(?) p.(Ala39Thr) N-Term Unknown - likely benign g.113848522G>A g.113977800G>A c.97G>A, p.A33T - HTR3A_000008 - PubMed: Kaiser 2004 - - Germline - 0.012 (242 analysed) -AciI,BsrBI,Cac8I,FauI 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Pharmacogenetic study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 2 c.115G>A r.(?) p.(Ala39Thr) N-Term Unknown - likely benign g.113848522G>A g.113977800G>A c.97G>A, p.A33T - HTR3A_000008 - PubMed: Hammer 2009 - - Germline - 0.000 (0.000-0.010) -AciI,BsrBI,Cac8I,FauI 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
-?/? 2 c.115G>A r.(?) p.(Ala39Thr) N-Term Unknown - likely benign g.113848522G>A g.113977800G>A c.97G>A , p.A33T - HTR3A_000008 - PubMed: Frank 2004 - - Germline - 2/96 FM (1/258 Controls) -AciI,BsrBI,Cac8I,FauI 0 - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study, tested for Fibromyalgia - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 3i c.282+7A>C r.(?) p.(=) - Unknown - likely benign g.113850006A>C g.113979284A>C IVS3+7A>C - HTR3A_000010 - PubMed: Niesler 2001b - rs61905785 Germline - 6/96 (6.25%) +CviKI_1 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 3i c.282+7A>C r.(?) p.(=) - Unknown - likely benign g.113850006A>C g.113979284A>C IVS3+7A>C - HTR3A_000010 - PubMed: Niesler 2001b - - Germline - 5/96 (5.2%) +CviKI_1 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 3i c.282+7A>C r.(?) p.(=) - Unknown - likely benign g.113850006A>C g.113979284A>C IVS3+7A>C - HTR3A_000010 - PubMed: Frank 2004 - - Germline - 8/96 FM (5/96 Controls) +CviKI_1 0 - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study, tested for Fibromyalgia - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 3i c.282+7A>C r.(?) p.(=) - Unknown - likely benign g.113850006A>C g.113979284A>C IVS3+7A>C - HTR3A_000010 - PubMed: Niesler 2005 - - Germline - 8/47 GTS; 5/48 Controls +CviKI_1 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2005 Case Control Study, tested for Gilles de la Tourette syndrome - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 3i c.282+7A>C r.(?) p.(=) - Unknown - likely benign g.113850006A>C g.113979284A>C IVS3+7A>C - HTR3A_000010 - PubMed: Niesler 2001b - - Germline - 9/140 (6.4 %) +CviKI_1 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Schizophrenia - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 3i c.282+141G>A r.(?) p.(=) - Unknown - VUS g.113850140G>A g.113979418G>A rs2276302:c.282+141G>A - HTR3A_000011 - PubMed: Rajkumar 2012 - rs2276302 Germline - 0.1 -BstXI,HinfI,TfiI 0 - DNA SEQ blood - ? - PubMed: Rajkumar 2012 Pharmacogenetic study - - India Asian - 0 - - 1 Louise Amlie-Wolf
?/? 3i c.282+141G>A r.(?) p.(=) - Unknown - VUS g.113850140G>A g.113979418G>A rs2276302 - HTR3A_000011 - PubMed: Ducci 2009 - rs2276302 Germline - 0.1-0.37 -BstXI,HinfI,TfiI 0 - DNA arraySNP blood Illumina Golden Gate Assay Healthy/Control - PubMed: Ducci 2009 - - - United States;Finland white - 0 - - 1 Louise Amlie-Wolf
+?/. 4 c.371C>T r.(371c>u) p.(Pro124Leu) - Unknown - likely pathogenic g.113852013C>T g.113981291C>T c.353C>T (P118L) - HTR3A_000021 - PubMed: Bi 2012, Journal: Bi 2012 - - Germline ? 1/67 patients - 0 - DNA SEQ, SEQ-NG - - - 22865819-PatH10392 PubMed: Bi 2012, Journal: Bi 2012 - - - - white - 0 - - 1 Johan den Dunnen
?/? 4 c.371C>T r.371c>u p.(Pro124Leu) - Unknown - VUS g.113852013C>T g.113981291C>T c.353C>T; p.(P118L) - HTR3A_000021 - personal communication - - Germline - 1/67 +BstNI,PspGI / -BsmFI,HpaII,MspI,NciI 0 - DNA ? - - Healthy/Control - personal communication - - - - - - 0 - - 1 Louise Amlie-Wolf
-?/? 4i c.392+10G>A r.(?) p.(=) - Unknown - likely benign g.113852044G>A g.113981322G>A IVS4+10G>A - HTR3A_000012 - PubMed: Hammer 2009 - - Germline - 0.000 (0.000-0.018) -HpyCH4III 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
?/? 4i c.393-143G>A r.(?) p.(=) - Unknown - VUS g.113853699G>A g.113982977G>A - - HTR3A_000024 - PubMed: Ducci 2009 - rs3737457 Germline - 0.01-0.30 +StyI / -MnlI 0 - DNA arraySNP blood Illumina Golden Gate Assay Healthy/Control - PubMed: Ducci 2009 - - - United States;Finland white - 0 - - 1 Louise Amlie-Wolf
?/? 5i c.563-56G>T r.(?) p.(=) - Unknown - VUS g.113856681G>T g.113985959G>T - - HTR3A_000025 - PubMed: Joy Lin 2014 - rs10160548 Germline - 0.41 -AvaII,Sau96I 0 - DNA TaqMan blood - ? - PubMed: Joy Lin 2014 Pharmacogenetic study - - Taiwan Asian - 0 - - 1 Louise Amlie-Wolf
-?/? 6 c.585G>T r.(?) p.(Leu195Phe) N-Term Unknown - likely benign g.113856759G>T g.113986037G>T c.567G>T , p.L189F - HTR3A_000013 - PubMed: Hammer 2009 - - Germline - 0.005 (0.000-0.028) - 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
-?/? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Kaiser 2004 - - Germline - 3.8% /242 -Cac8I 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Pharmacogenetic study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Hammer 2009 - - Germline - 0.020 (0.006-0.050) -Cac8I 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
-?/-? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A , p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Niesler 2001b - - Germline - 3/150 (2%) -Cac8I 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Bipolar affective disorder - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Niesler 2001b - - Germline - 2/94 (2.1 %) -Cac8I 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Bipolar affective disorder - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Frank 2004 - - Germline - 4/96 FM (2/94 Controls) -Cac8I 0 - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study, tested for Fibromyalgia - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Niesler 2005 - - Germline - 1/48 GTS; 2/47 Controls -Cac8I 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2005 Case Control Study, tested for Gilles de la Tourette syndrome - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 6 c.594G>A r.(?) p.(Leu198=) N-Term Unknown - likely benign g.113856768G>A g.113986046G>A c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Niesler 2001b - - Germline - 5/98 (5.1%) -Cac8I 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Schizophrenia - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 7 c.849G>A r.(?) p.(Lys283=) TM2 Unknown - likely benign g.113857365G>A g.113986643G>A c.831G>A , p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Hammer 2009 - rs56232120 Germline - 0.005 (0.001-0.019) +MluCI / -Hpy188III 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
-?/-? 7 c.849G>A r.(?) p.(Lys283=) TM2 Unknown - likely benign g.113857365G>A g.113986643G>A c.831G>A, p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Niesler 2001b - rs56232120 Germline - 2/98 (2%) +MluCI / -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Bipolar affective disorder - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 7 c.849G>A r.(?) p.(Lys283=) TM2 Unknown - likely benign g.113857365G>A g.113986643G>A c.831G>A , p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Niesler 2001b - rs56232120 Germline - 2/94 (2.1%) +MluCI / -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 7 c.849G>A r.(?) p.(Lys283=) TM2 Unknown - likely benign g.113857365G>A g.113986643G>A c.831G>A , p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Frank 2004 - rs56232120 Germline - 21/96 FM (74/310 Controls) +MluCI / -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study, tested for Fibromyalgia - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 7 c.849G>A r.(?) p.(Lys283=) TM2 Unknown - likely benign g.113857365G>A g.113986643G>A c.831G>A, p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Niesler 2005 - rs56232120 Germline - 2/48 GTS; 2/47 Controls +MluCI / -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2005 Case Control Study, tested for Gilles de la Tourette syndrome - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 7 c.849G>A r.(?) p.(Lys283=) TM2 Unknown - likely benign g.113857365G>A g.113986643G>A c.831G>A , p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Niesler 2001b - rs56232120 Germline - 6/142 (4.2%) +MluCI / -Hpy188III 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study, tested for Schizophrenia - - Germany white - 0 - - 1 Louise Amlie-Wolf
+?/+? 8 c.1049G>A r.(?) p.(Arg350His) LIL Unknown - association g.113857661G>A g.113986939G>A c.1031G>A , p.R344H; (1250 G>A) - HTR3A_000016 - PubMed: Niesler 2001 - rs35815285 Germline - 1/560 (0.002) +HpyCH4V,SfaNI / -HgaI,Tsp45I 0 - DNA SSCA blood - ? - PubMed: Niesler 2001 Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
+?/? 8i c.1156+118G>A r.(?) p.(=) - Unknown - association g.113857886G>A g.113987164G>A IVS8+118G>A - HTR3A_000018 - PubMed: Anderson 2009 - rs1150220 Germline - 0.21 -BstAPI,MwoI 0 - DNA TaqMan blood - autism - PubMed: Anderson 2009 Case Control Study - - United States white - 0 - - 1 Louise Amlie-Wolf
+?/+? 9 c.1190C>G r.(?) p.(Pro397Arg) LIL Unknown - association g.113860220C>G g.113989498C>G c.1172C>G, p.P391R; (1391 C>G) - HTR3A_000019 - PubMed: Niesler 2001 - - Germline - 1/716 (0.0015) +BsaHI,HgaI / -AvaII,EcoO109I,NlaIV,PpuMI,Sau96I 0 - DNA SSCA blood - ? - PubMed: Niesler 2001 Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Kaiser 2004 - rs1176713 Germline - 34.5%/242 -BfaI,BmtI,NheI 0 - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Pharmacogenetic study, Cancer>CINV n.a. - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Hammer 2009 - rs1176713 Germline - 0.210 (0.156-0.273) -BfaI,BmtI,NheI 0 - DNA SEQ blood - Healthy/Control - PubMed: Hammer 2009 Case Control Study, tested for Anorexia/Bulimia - - Germany;Spain white - 0 - - 1 Louise Amlie-Wolf
-?/-? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G; (1596 A>G) - HTR3A_000020 - PubMed: Niesler 2001b - rs1176713 Germline - 22/98 (22.4 %) -BfaI,BmtI,NheI 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Niesler 2001b - rs1176713 Germline - 74/310 (23.9%) -BfaI,BmtI,NheI 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Frank 2004 - rs1176713 Germline - - -BfaI,BmtI,NheI 0 - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Niesler 2005 - rs1176713 Germline - 14/48 GTS; 69/155 Controls -BfaI,BmtI,NheI 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2005 Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/-? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G , p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Niesler 2001b - rs1176713 Germline - 130/716 (18.15%) -BfaI,BmtI,NheI 0 - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001b Case Control Study - - Germany white - 0 - - 1 Louise Amlie-Wolf
-?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - likely benign g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Gu 2008 - rs1176713 Germline - - -BfaI,BmtI,NheI 0 - DNA ? blood - Healthy/Control - PubMed: Gu 2008 Pharmacogenetic study - - China Asian - 0 - - 1 Louise Amlie-Wolf
?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - VUS g.113860425A>G g.113989703A>G rs1176713: NM_000869.5:c.1395A>G; NM_001161772.2:c.1332A>G; NM_213621.3:c.1491A>G NP_000860.2:p.Leu465=;NP_001155244.1:p.Leu444=; NP_998786.2:p.Leu497= - HTR3A_000020 - PubMed: Xu 2012 - rs1176713 Germline - 0.273 -BfaI,BmtI,NheI 0 - DNA arraySNP blood Illumina Golden Gate Assay ? - PubMed: Xu 2012 Pharmacogenetic study - - China Asian - 0 - - 1 Louise Amlie-Wolf
?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - VUS g.113860425A>G g.113989703A>G c.1377A>G, p.L459L; (1596 A>G) - HTR3A_000020 - PubMed: Rüffert 2009 - rs1176713 Germline - 0.226 -BfaI,BmtI,NheI 0 - DNA SEQ blood - Healthy/Control - PubMed: Rüffert 2009 Pharmacogenetic study - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 9 c.1395A>G r.(?) p.(Leu465=) TM4 Unknown - VUS g.113860425A>G g.113989703A>G rs1176713 :p.Leu465= - HTR3A_000020 - PubMed: Ducci 2009 - rs1176713 Germline - 0.23-0.35 -BfaI,BmtI,NheI 0 - DNA arraySNP blood Illumina Golden Gate Assay Healthy/Control - PubMed: Ducci 2009 - - - United States;Finland white - 0 - - 1 Louise Amlie-Wolf
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