Unique variants in the HTR3A gene

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

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

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.-489A>G r.(?) p.(=) - - association g.113845541A>G g.113974819A>G -507A>G, -233-u256A>G - HTR3A_000001 - PubMed: Windemuth 2008 - rs1150226 Germline - 0.15 - - - Louise Amlie-Wolf
?/? 1 _1 c.-489A>G r.(?) p.(=) - - VUS g.113845541A>G - - - HTR3A_000022 - PubMed: Ducci 2009 - rs1150226 Germline - 0.04-0.06 - - - Louise Amlie-Wolf
-?/? 1 1 c.-112_-109dup r.(?) p.(=) - - likely benign g.113845918_113845921dup g.113975196_113975199dup c.-130_-129insGAAA - HTR3A_000002 - PubMed: Hammer 2009 - - Germline - 0.008 (0.002-0.023) - - - Louise Amlie-Wolf
?/? 1 1 c.-111_-110del r.(?) p.(=) - - VUS g.113845919_113845920del g.113975197_113975198del c.-130_-129del - HTR3A_000003 - PubMed: Kaiser 2004 - - Germline - 0.008 +BpuEI,SmlI / -BspCNI,DdeI,Hpy188I,HpyAV - - Louise Amlie-Wolf
+?/+?, +?/?, -?/-?, -?/?, ?/? 21 1 c.-24T>C r.(?) p.(=) - - association, likely benign, 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 deVires 2007 (Meeting Abstract), PubMed: Frank 2004, PubMed: Gatt 2010, PubMed: Gatt 2010, 16 more items - rs1062613 Germline - 0.08, 0.12, 0.150 (0.104-0.207), 0.17-0.22, 0.186 (0.149-0.229), 0.19, 0.22, 0.24, 0.27, 0.35, 134/366, 6 more items -Hpy188III - - Louise Amlie-Wolf
-?/-? 1 1 c.-7C>T r.(?) p.(=) - - 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 - - Louise Amlie-Wolf
-?/? 1 8 c.(1060_1062) r.(?) p.(Leu354=) LIL - likely benign g.(113857672_113857674)? - c.? (L354L) - HTR3A_000017 - PubMed: Kaiser 2004 - - Germline - 0.004 (242 analysed) - - - Louise Amlie-Wolf
-?/? 1 7 c.? r.(?) p.? N-Term - likely benign g.? - c.?, p.M257I - HTR3A_000014 - PubMed: Kaiser 2004 - - Germline - 3.0%/242 - - - Louise Amlie-Wolf
-?/-?, -?/?, ?/? 5 1 c.48C>T r.(?) p.(Leu16=) N-Term - likely benign, VUS g.113846077C>T g.113975355C>T c.30C>T , p.L10L; (249C>T,C249T), c.30C>T, p.L10L; (249C>T,C249T), rs33940208 ; p.Leu16Leu, 1 more item - HTR3A_000005 - PubMed: Hammer 2009, PubMed: Joy Lin 2014, PubMed: Kaiser 2004, PubMed: Niesler 2001b, 1 more item - rs33940208 Germline - 0.026 (0.013-0.048), 0.26, 2/96 FM (5/312 Controls), 4/312 BP( 5/312 Controls. 2/150 SZ ) - - - Louise Amlie-Wolf
-?/? 1 1 c.50C>T r.(?) p.(Ala17Val) N-Term - 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) - - - Louise Amlie-Wolf
?/? 1 1i c.86-220A>T r.(?) p.(=) - - VUS g.113848273A>T g.113977551A>T - - HTR3A_000023 - PubMed: Joy Lin 2014 - rs1985242 Germline - 0.42 - - - Louise Amlie-Wolf
-?/? 3 2 c.115G>A r.(?) p.(Ala39Thr) N-Term - likely benign g.113848522G>A g.113977800G>A c.97G>A , p.A33T, c.97G>A, p.A33T - HTR3A_000008 - PubMed: Frank 2004, PubMed: Hammer 2009, PubMed: Kaiser 2004 - - Germline - 0.000 (0.000-0.010), 0.012 (242 analysed), 2/96 FM (1/258 Controls) -AciI,BsrBI,Cac8I,FauI - - Louise Amlie-Wolf
-?/-?, -?/? 5 3i c.282+7A>C r.(?) p.(=) - - likely benign g.113850006A>C g.113979284A>C IVS3+7A>C - HTR3A_000010 - PubMed: Frank 2004, PubMed: Niesler 2001b, PubMed: Niesler 2005 - rs61905785 Germline - 5/96 (5.2%), 6/96 (6.25%), 8/47 GTS; 5/48 Controls, 8/96 FM (5/96 Controls), 9/140 (6.4 %) +CviKI_1 - - Louise Amlie-Wolf
?/? 2 3i c.282+141G>A r.(?) p.(=) - - VUS g.113850140G>A g.113979418G>A rs2276302, rs2276302:c.282+141G>A - HTR3A_000011 - PubMed: Ducci 2009, PubMed: Rajkumar 2012 - rs2276302 Germline - 0.1, 0.1-0.37 -BstXI,HinfI,TfiI - - Louise Amlie-Wolf
+?/., ?/? 2 4 c.371C>T r.(371c>u), r.371c>u p.(Pro124Leu) - - likely pathogenic, VUS g.113852013C>T g.113981291C>T c.353C>T (P118L), c.353C>T; p.(P118L) - HTR3A_000021 - personal communication, PubMed: Bi 2012, Journal: Bi 2012 - - Germline ? 1/67, 1/67 patients +BstNI,PspGI / -BsmFI,HpaII,MspI,NciI - - Zhongsheng Sun, Louise Amlie-Wolf
-?/? 1 4i c.392+10G>A r.(?) p.(=) - - likely benign g.113852044G>A g.113981322G>A IVS4+10G>A - HTR3A_000012 - PubMed: Hammer 2009 - - Germline - 0.000 (0.000-0.018) -HpyCH4III - - Louise Amlie-Wolf
?/? 1 4i c.393-143G>A r.(?) p.(=) - - VUS g.113853699G>A g.113982977G>A - - HTR3A_000024 - PubMed: Ducci 2009 - rs3737457 Germline - 0.01-0.30 +StyI / -MnlI - - Louise Amlie-Wolf
?/? 1 5i c.563-56G>T r.(?) p.(=) - - VUS g.113856681G>T g.113985959G>T - - HTR3A_000025 - PubMed: Joy Lin 2014 - rs10160548 Germline - 0.41 -AvaII,Sau96I - - Louise Amlie-Wolf
-?/? 1 6 c.585G>T r.(?) p.(Leu195Phe) N-Term - 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) - - - Louise Amlie-Wolf
-?/-?, -?/? 7 6 c.594G>A r.(?) p.(Leu198=) N-Term - likely benign g.113856768G>A g.113986046G>A c.576G>A , p.L192L; (795 G>A), c.576G>A, p.L192L; (795 G>A) - HTR3A_000013 - PubMed: Frank 2004, PubMed: Hammer 2009, PubMed: Kaiser 2004, PubMed: Niesler 2001b, 1 more item - - Germline - 0.020 (0.006-0.050), 1/48 GTS; 2/47 Controls, 2/94 (2.1 %), 3.8% /242, 3/150 (2%), 5/98 (5.1%), 1 more item -Cac8I - - Louise Amlie-Wolf
-?/-?, -?/? 6 7 c.849G>A r.(?) p.(Lys283=) TM2 - likely benign g.113857365G>A g.113986643G>A c.831G>A , p.K277K; (1050 G>A), c.831G>A, p.K277K; (1050 G>A) - HTR3A_000015 - PubMed: Frank 2004, PubMed: Hammer 2009, PubMed: Niesler 2001b, PubMed: Niesler 2005 - rs56232120 Germline - 0.005 (0.001-0.019), 2/48 GTS; 2/47 Controls, 2/94 (2.1%), 2/98 (2%), 21/96 FM (74/310 Controls), 1 more item +MluCI / -Hpy188III - - Louise Amlie-Wolf
+?/+? 1 8 c.1049G>A r.(?) p.(Arg350His) LIL - 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 - - Louise Amlie-Wolf
+?/? 1 8i c.1156+118G>A r.(?) p.(=) - - association g.113857886G>A g.113987164G>A IVS8+118G>A - HTR3A_000018 - PubMed: Anderson 2009 - rs1150220 Germline - 0.21 -BstAPI,MwoI - - Louise Amlie-Wolf
+?/+? 1 9 c.1190C>G r.(?) p.(Pro397Arg) LIL - 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 - - Louise Amlie-Wolf
-?/-?, -?/?, ?/? 11 9 c.1395A>G r.(?) p.(Leu465=) TM4 - likely benign, VUS g.113860425A>G g.113989703A>G c.1377A>G , p.L459L; (1596 A>G), c.1377A>G, p.L459L; (1596 A>G), rs1176713 :p.Leu465=, 2 more items - HTR3A_000020 - PubMed: Ducci 2009, PubMed: Frank 2004, PubMed: Gu 2008, PubMed: Hammer 2009, PubMed: Kaiser 2004, 4 more items - rs1176713 Germline - 0.210 (0.156-0.273), 0.226, 0.23-0.35, 0.273, 130/716 (18.15%), 14/48 GTS; 69/155 Controls, 34.5%/242, 2 more items -BfaI,BmtI,NheI - - Louise Amlie-Wolf
Legend   How to query