Full data view for gene HTR3D

University of Heidelberg Serotonin receptor variant database
Information The variants shown are described using the NM_182537.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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+/. - c.-78A>C r.(?) p.(=) - Both (homozygous) - association g.183752964A>C g.184035176A>C - - HTR3D_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.-78A>C r.(?) p.(=) - Both (homozygous) - association g.183752964A>C g.184035176A>C - - HTR3D_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/? 2 c.-78A>C r.(?) p.(=) - Unknown - VUS g.183752964A>C g.184035176A>C - - HTR3D_000001 - Niesler-Lab Kapeller PhD Thesis 2009 - rs77099580 Germline - 0.033 (0.012-0.070) +HpaII, MspI, NciI; -BstNI, PspGI 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 2 c.-53A>T r.(?) p.(=) - Unknown - VUS g.183752989A>T g.184035201A>T - - HTR3D_000002 - Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0 (0.000-0.020) - 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 3 c.91C>G r.(?) p.(Pro31Ala) - Unknown - VUS g.183754278C>G g.184036490C>G p.P31A - HTR3D_000003 - Niesler-Lab Kapeller PhD Thesis 2009 - rs73183412 Germline - 0.065 (0.034-0.111) +AciI; -BslI 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
+?/? 3 c.107G>C r.(?) p.(Gly36Ala) N-term, Cys-loop Unknown - association g.183754294G>C g.184036506G>C p.A36G; c.332G>A - HTR3D_000004 - PubMed: Hammer 2010 - rs6443930 Germline - 0.477 (0.408-0.546) +AluI; -HphI, Hpy166II, MnlI 0 - DNA SEQ blood - cancer - PubMed: Hammer 2010 Pharmacogenetic study - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 3 c.107G>C r.(?) p.(Gly36Ala) - Unknown - VUS g.183754294G>C g.184036506G>C p.A36G; c.332G>A - HTR3D_000004 - Niesler-Lab Kapeller PhD Thesis 2009 - rs6443930 Germline - 0.505 (0.431-0.580) +AluI; -HphI, Hpy166II, MnlI 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 3 c.110A>T r.(?) p.(Glu37Ala) N-term, Cys-loop Unknown - VUS g.183754297A>T g.184036509A>T p.G37A - HTR3D_000005 - Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0 (0.000-0.020) +CviQI, RsaI 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 4 c.155G>A r.(?) p.(Arg52His) N-term, Cys-loop Unknown - VUS g.183755822G>A g.184038034G>A p.H52R; c.380G>A - HTR3D_000006 - PubMed: Hammer 2010 - rs1000952 Germline - 0.338 (0.274–0.408) -BfuAI, BspMI, HhaI, HinP1I 0 - DNA SEQ blood - cancer - PubMed: Hammer 2010 Case control study - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 4 c.155G>A r.(?) p.(Arg52His) - Unknown - VUS g.183755822G>A g.184038034G>A p.H52R; c.380G>A - HTR3D_000006 - Niesler-Lab Kapeller PhD Thesis 2009 - rs1000952 Germline - 0.337 (0.269-0.410) -BfuAI, BspMI, HhaI, HinP1I 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 4 c.155G>A r.(?) p.(Arg52His) - Unknown - VUS g.183755822G>A g.184038034G>A p.H52R - HTR3D_000006 - PubMed: Lennertz 2014 - rs1000952 Germline - - -BfuAI, BspMI, HhaI, HinP1I 0 - DNA SEQ blood - ? - PubMed: Lennertz 2014 Case control study - - Germany white - 0 - - 1 Louise Amlie-Wolf
?/. - c.177C>T r.(?) p.(Tyr59=) - Unknown - VUS g.183755844C>T - HTR3D(NM_001163646.2):c.696C>T (p.Y232=) - HTR3D_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.297C>T r.(?) p.(Ser99Ser) - Unknown - VUS g.183755964C>T g.184038176C>T p.S99S - HTR3D_000007 - Niesler-Lab Kapeller PhD Thesis 2009 - rs55684978 Germline - 0.027 (0.009-0.062) +BtsIMutI, TspRI; -HgaI 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
?/? 8 c.*74delinsTGTCAGTCCAAATT r.(?) p.(=) - Unknown - VUS g.183756837delinsTGTCAGTCCAAATT g.184039049delinsTGTCAGTCCAAATT *74delGinsTGTCAGTCCAAATT - HTR3D_000008 - Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0.326 (0.259-0.399) +ApoI, CviAII, FatI, MluCI, NlaIII; -BspCNI, DdeI 0 - DNA SEQ blood - Healthy/Control - Niesler-Lab Kapeller PhD Thesis 2009 Case control study - - United Kingdom (Great Britain);Germany white - 0 - - 1 Louise Amlie-Wolf
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