Unique variants in the HTR3B gene

University of Heidelberg Serotonin receptor variant database
Information The variants shown are described using the NM_006028.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
+?/? 1 1 c.-381T>C r.(?) p.(=) - - association g.113775275T>C - c.-67-u314A>G - HTR3B_000001 - PubMed: Levran 2008 - rs3758987 Germline - 0.23 +BsiHKAI,Bsp1286I,BtsI,BtsIMutI,TspRI / -CviQI,RsaI,ScaI - - Louise Amlie-Wolf
+?/?, ?/? 9 1 c.-102_-100del -, r.(?) p.(=) - - association, NA, VUS g.113775554_113775556del g.113904832_113904834del -106_-104delGGA, -99_-102delAAG, c.-104_-102delAGA, 1 more item - HTR3B_000002 1 more item Niesler-Lab Kapeller PhD Thesis 2009, PubMed: Frank 2004, PubMed: Hammer 2009, PubMed: Ji 2008, 5 more items - rs45460698 Germline, In vitro (cloned) - 0.082 (0.047-0.132, 0.12, 0.13, 0.145 (0.099-0.202), 0.15, 0.26 -HpyAV - - Louise Amlie-Wolf
?/? 1 1 c.-3G>A r.(?) p.(=) - - VUS g.113775653G>A g.113904931G>A c.-3G>A - HTR3B_000003 n/a PubMed: Hammer 2009 - - Germline - 0.025 (0.008-0.058) -BsaJI,BssKI,BstNI,LpnPI,PspGI,ScrFI,StyD4I - - Louise Amlie-Wolf
?/? 1 1i c.52+2055T>G r.(?) p.(=) - - VUS g.113777762T>G g.113907040T>G rs10502180 - HTR3B_000018 - PubMed: Ducci 2009 - rs10502180 Germline - 0.01-0.31 +AflIII, HpyCH4IV - - Louise Amlie-Wolf
?/? 1 2i c.213+804T>C r.(?) p.(=) - - VUS g.113780981T>C g.113910259T>C rs11606194 - HTR3B_000015 - PubMed: Ducci 2009 - rs11606194 Germline - 0.07-0.10 +MnlI - - Louise Amlie-Wolf
?/? 1 2i c.213+6362C>T r.(?) p.(=) - - VUS g.113786539C>T g.113915817C>T rs4938056 - HTR3B_000014 - PubMed: Archer 2014 - rs4938056 Germline - 0.34 - - - Louise Amlie-Wolf
?/? 1 2i c.214-438G>A r.(?) p.(=) - - VUS g.113801668G>A g.113930946G>A rs17116121 - HTR3B_000005 - PubMed: Ducci 2009 - rs17116121 Germline - 0.03-0.10 - - - Louise Amlie-Wolf
?/? 1 4i c.368+11C>T r.(?) p.(=) - - VUS g.113802600C>T g.113931878C>T c.? ; (IVS4+11C>T) - HTR3B_000004 n/a PubMed: Kapeller 2008 - rs45597437 Germline - 0.022 (0.006-0.055) +BfaI / -BsrI,BtsIMutI,LpnPI,TspRI - - Louise Amlie-Wolf
+?/?, ?/? 17 5 c.386A>C -, r.(?) p.(Tyr129Ser), p.Tyr129Ser N-Term - association, NA, VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S, c.386A>C , p.Y129S (rs1176744), c.386A>C , p.Y129S; rs1176744, p.Y129S, 2 more items - HTR3B_000005 - Aibiki 2007 (Meeting Abstract DDW 2007), Fukudo meeting abstract DDW2009, PubMed: Ducci 2009, 14 more items - rs1176744 Germline, In vitro (cloned) - 0.23, 0.25, 0.263 Asians, 0.267 (0.223-0.314), 0.27-0.38, 0.27-0.43, 0.299 (0.234-0.371), 0.36, 2 more items +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI, +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI - - Louise Amlie-Wolf
?/? 1 5 c.428T>C r.(?) p.(Ile143Thr) N-Term - VUS g.113803070T>C g.113932348T>C p.I143T - HTR3B_000006 - PubMed: Yamada 2006 - - Germline - 0.003 MAF +BspCNI,BtsIMutI,DdeI,TspRI - - Louise Amlie-Wolf
?/? 2 5 c.462G>A r.(?) p.(Ala154=) N-Term - VUS g.113803104G>A g.113932382G>A p.A154A, 1 more item - HTR3B_000007 - PubMed: Hammer 2009, PubMed: Seneviratne 2013 - rs2276305 Germline - 0.003 (0.000-0.015), 0.006 +CviAII, FatI, NlaIII, NspI, SphI; -BsgI, +CviAII,FatI,NlaIII,NspI,SphI / -BsgI - - Louise Amlie-Wolf
?/? 1 5 c.462G>C r.(?) p.(Ala154=) - - VUS g.113803104G>C g.113932382G>C 1 more item - HTR3B_000016 - PubMed: Seneviratne 2013 - rs2276305 Germline - 0.006 +PstI, SfcI; -BsgI - - Louise Amlie-Wolf
?/? 1 5 c.462G>T r.(=) p.(=) - - VUS g.113803104G>T g.113932382G>T 1395A>G - HTR3B_000017 - PubMed: Seneviratne 2013 - rs2276305 Germline - 0.006 -BsgI - - Louise Amlie-Wolf
?/? 4 5 c.466A>C -, r.(?) p.(Ser156Arg), p.Ser156Arg N-Term, Cys-Loop - NA, VUS g.113803108A>C g.113932386A>C p.S156R - HTR3B_000008 - Niesler-Lab Kapeller PhD Thesis 2009, PubMed: Frank 2004, PubMed: Krzywkowski 2008, 1 more item - - Germline, In vitro (cloned) - 0.008, 0.033 (0.012-0.070 +BceAI / -BsgI,HpyCH4V - - Louise Amlie-Wolf
?/? 3 6 c.547G>A r.(?) p.(Val183Ile) N-Term - VUS g.113803666G>A g.113932944G>A p.V183I - HTR3B_000009 1 more item PubMed: Ducci 2009, PubMed: Frank 2004, PubMed: Hammer 2009 - rs17116138 Germline - 0.0-0.10, 0.030 (0.011-0.064), 6/49 BPAD. 1/61 C -AccI, Hpy166II, HpyCH4IV, -AccI,Hpy166II,HpyCH4IV - - Louise Amlie-Wolf
?/? 3 6 c.667G>A -, r.(?) p.(Ala223Thr), p.Ala223Thr N-Term - NA, VUS g.113803786G>A g.113933064G>A p.A223T - HTR3B_000010 - PubMed: Krzywkowski 2008, PubMed: Tremblay 2003, PubMed: Walstab 2008 - - Germline, In vitro (cloned) - 0.002 +BsrI,BtsIMutI,TspRI / -AfeI,HaeII,HhaI,HinP1I - - Louise Amlie-Wolf
?/? 1 6i c.696+40C>A r.(?) p.(=) - - VUS g.113803855C>A g.113933133C>A c.? ; (IVS6+40C>A) - HTR3B_000011 - PubMed: Hammer 2009 - rs45595034 Germline - 0.025 (0.008-0.058) +CspCI (2) / -BseYI,BslI,PflMI - - Louise Amlie-Wolf
+?/?, ?/? 3 6i c.696+72A>G r.(?) p.(=) - - association, VUS g.113803887A>G g.113933165A>G (IVS6+72A>G), c.? ; (IVS6+72A>G), rs2276307 - HTR3B_000012 - PubMed: Ducci 2009, PubMed: Hammer 2009, PubMed: Ruano 2007 - rs2276307 Germline - 0.025 (0.008-0.058), 0.17-0.24, 0.17-0.31 -ApoI, MluCI, -ApoI,MluCI - - Louise Amlie-Wolf
?/? 1 6i c.696+161C>G r.(?) p.(=) - - VUS g.113803976C>G g.113933254C>G c.? ; (IVS6+161C>G) - HTR3B_000013 - PubMed: Hammer 2009 - rs2276308 Germline - 0.190 (0.138-0.251) - - - Louise Amlie-Wolf
?/? 4 6i c.696+3792G>A r.(?) p.(=) - - VUS g.113807607G>A g.113936885G>A IVS6+3792A>G, rs3782025, rs3782025:AG(HTR3B). - HTR3B_000019 - PubMed: Ducci 2009, PubMed: Lehmann 2013, PubMed: Seneviratne 2013 - rs3782025 Germline - 0.35-0.48 -EcoO109I, HaeIII, Sau96I - - Louise Amlie-Wolf
?/? 1 6i c.697-91T>A r.(?) p.(=) - - VUS g.113813613T>A g.113942891T>A rs1176761 - HTR3B_000020 - PubMed: Ducci 2009 - rs1176761 Germline - 0.03-0.10 +BsmFI; -BbsI, MboII - - Louise Amlie-Wolf
./. 1 - c.871C>T r.(?) p.(Gln291*) - - VUS g.113813878C>T g.113943156C>T - - HTR3B_000023 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
?/? 2 9 c.*69A>G r.(=) p.(=) TM4 - VUS g.113816928A>G g.113946206A>G c5 201_ 202delCA, 27721-22, rs34236293, c6-137CT - HTR3B_000021 - PubMed: Rüffert 2009 - - Germline - 0.005, 0.342 -MseI - - Louise Amlie-Wolf
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