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.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.-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 - - DNA SEQ blood - cancer - PubMed: Kaiser 2004 Case Control Study, Cancer>CINV n.a. - - Germany white - - - - 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 - - DNA SEQ blood - ? - PubMed: Hammer 2009 Case Control Study - - Germany;Spain white - - - - 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 - - DNA SSCA blood - ? - PubMed: Niesler 2001a Case Control Study - - Germany white - - - - 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 - - DNA PCRdig, SEQp blood Restriction Digestion Analysis AciI/PyroSEQ Healthy/Control - PubMed: Melke 2003 Case Control Study (Controls Harm Avoidance in women) - - Sweden white - - - - 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 - - DNA PCR blood KASP ? - PubMed: Kilpatrick 2011 Neuroimaging (PET/fMRI) (IBS) - - United States white - - - - 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 - - DNA SSCA blood - Healthy/Control - PubMed: Frank 2004 Case Control Study, tested for Fibromyalgia - - Germany white - - - - 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 - - DNA SEQ blood - ? - deVires 2007 (Meeting Abstract) Case Control Study - - Netherlands white - - - - 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 - - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2005 Case Control Study, tested for Gilles de la Tourette syndrome - - Germany white - - - - 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 - - DNA SEQ blood - ? - PubMed: Kapeller 2008 Case Control Study - - United Kingdom (Great Britain);Germany white - - - - 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 - - DNA SSCA blood - ? - PubMed: Niesler 2001a Case Control Study - - Germany white - - - - 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 - - DNA TaqMan blood - Healthy/Control - PubMed: Lehmann 2013 pharmacogenetic study, controls > preganant women: NVP - - United States - - - - - 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 - - DNA SEQ blood - ? - PubMed: Rajkumar 2012 Pharmacogenetic study - - India Asian - - - - 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 - - DNA PCRdig blood - ? - PubMed: Gu 2015 Case control study - - China Asian - - - - 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 - - DNA PCRdig blood - ? - PubMed: Kato 2006 Pharmacogenetic study - - Japan Asian - - - - 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 - - DNA arraySNP blood iPlex Gold Assay ? - PubMed: Hammer 2012 Case Control Study - - Poland white - - - - 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 - - DNA arraySNP blood Illumina platform ? - PubMed: Jajodia 2015 Case Control Study - - India Asian - - - - 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 - - DNA PCR blood - ? - PubMed: Zhang 2013 Case control study - - China Asian - - - - 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 - - DNA SEQ blood - ? - PubMed: Sugai 2006 Pharmacogenetic study, psychiatric patients - - Japan Asian - - - - 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 - - DNA PCR blood Molecular Beacon Assays iCycler ? - PubMed: Mujakovic 2011 Case Control Study - - Netherlands white - - - - 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 - - DNA MS blood Sequenom MassArray Healthy/Control - PubMed: Gatt 2010 Brain Imaging, negative mood symptoms - - Australia white - - - - 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 - - DNA MS blood Sequenom MassArray Healthy/Control - PubMed: Gatt 2010 risk of depression - - Australia white - - - - 1 Louise Amlie-Wolf
+/. - c.-24T>C r.(?) p.(=) - Parent #1 - association g.113846006T>C g.113975284T>C -42C>T (178C>T, C178T) - HTR3A_000004 - Atanasova 2022, submitted - rs1062613 Germline - 27/83 cases IBD - - - DNA PCR - - IBD - Atanasova 2022, submitted analysis 86 cases IBD - - - - - - - - 27 Stefanie Schmitteckert
+/. - c.-24T>C r.(?) p.(=) - Both (homozygous) - association g.113846006T>C g.113975284T>C -42C>T (178C>T, C178T) - HTR3A_000004 - Atanasova 2022, submitted - rs1062613 Germline - 54/83 cases IBD - - - DNA PCR - - IBD - Atanasova 2022, submitted analysis 86 cases IBD - - - - - - - - 54 Stefanie Schmitteckert
-?/-? 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 - - DNA SSCA blood - Healthy/Control - PubMed: Niesler 2001a Case Control Study, tested for Bipolar affective disorder - - Germany white - - - - 1 Louise Amlie-Wolf
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