All variants in the HTR3E gene

University of Heidelberg Serotonin receptor variant database
Information The variants shown are described using the NM_182589.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

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     
?/? 1a c.-467A>G r.(?) p.(=) - - VUS g.183817694A>G - - - HTR3E_000001 Sequence of patient differs from reference sequence Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0.495 (0.424-0.566) - - - Louise Amlie-Wolf
?/? 1 c.-189A>G r.(?) p.(=) - - VUS g.183817972A>G g.184100184A>G - - HTR3E_000003 - PubMed: Kapeller 2008 - rs34611203 Germline - 0.185 (0.134-0.250) +AvaII,Sau96I - - Louise Amlie-Wolf
?/? 8 c.? r.(?) ? - - VUS g.? - 1307A>G - HTR3E_000010 Sequence of patient differs from reference sequence Niesler-Lab Hammer Diploma Thesis 2006 - - Germline - 0.5 - - - Louise Amlie-Wolf
?/? 1 c.64del r.(?) p.(Glu22Serfs*39) - - VUS g.183818224del g.184100436del c.62delG - HTR3E_000004 - Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0.085 (0.050-0.133) - - - Louise Amlie-Wolf
?/? 1a c.67+55A>G r.(?) p.(=) - - VUS g.183818282A>G - - - HTR3E_000002 Sequence of patient differs from reference sequence Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0.495 (0.424-0.566) - - - Louise Amlie-Wolf
+?/? 1 c.256G>A r.(?) p.(Ala86Thr) - - association g.183818416G>A g.184100628G>A - - HTR3E_000005 - PubMed: Schumacher 2009 - rs7627615 Germline - - - - - Louise Amlie-Wolf
+?/? 1 c.256G>A r.(?) p.(Ala86Thr) - - association g.183818416G>A g.184100628G>A A450G, Thr86Ala - HTR3E_000005 - PubMed: Lennertz 2010 - rs7627615 Germline - - - - - Louise Amlie-Wolf
?/? 6 c.256G>A r.(?) p.(Ala86Thr) - - VUS g.183818416G>A g.184100628G>A - - HTR3E_000005 - Niesler-Lab Kapeller PhD Thesis 2009 - rs7627615 Germline - 0.37 (0.303-0.441) - - - Louise Amlie-Wolf
?/? 6 c.789T>C r.(?) p.(=) - - VUS g.183823576T>C g.184105788T>C - - HTR3E_000006 - Niesler-Lab Kapeller PhD Thesis 2009 - rs4912524 Germline - 0.01 (0.001-0.036) - - - Louise Amlie-Wolf
?/? 6i c.971-55G>T r.(?) p.(=) - - VUS g.183823861G>T g.184106073G>T IVS6-55G>T - HTR3E_000007 - Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0 (0.000-0.018) -EarI - - Louise Amlie-Wolf
?/? 6i c.971-50_971-47dup r.(?) p.(=) - - VUS g.183823866_183823869dup g.184106078_184106081dup IVS6-46insGAAA - HTR3E_000008 - Niesler-Lab Kapeller PhD Thesis 2009 - rs56024836 Germline - 0.37 (0.303-0.441) - - - Louise Amlie-Wolf
?/? 6i c.971-36T>C r.(?) p.(=) - - VUS g.183823880T>C g.184106092T>C IVS6-36T>C - HTR3E_000009 - Niesler-Lab Kapeller PhD Thesis 2009 - rs55756277 Germline - 0.04 (0.017-0.077) -BsaHI,HaeII,HhaI,HinP1I,KasI,MwoI,NarI,PluTI,SfoI - - Louise Amlie-Wolf
+?/? 8 c.*76G>A r.(?) p.(=) - - association g.183824557G>A g.184106769G>A - - HTR3E_000011 - PubMed: Kapeller 2008 - rs56109847 Germline - 0.06 (0.031-0.103) -BspCNI, Hpy188III - - Louise Amlie-Wolf
?/? 8 c.*76G>A r.(?) p.(=) - - VUS g.183824557G>A g.184106769G>A - - HTR3E_000011 impaired miRNA regulation, increased expression PubMed: Zhang Y. 2013 - rs56109847 Germline - - -BspCNI, Hpy188III - - Louise Amlie-Wolf
+?/? 8 c.*76G>A r.(?) p.(=) - - association g.183824557G>A g.184106769G>A - - HTR3E_000011 impaired miRNA regulation, increased expression PubMed: Gu 2015 - rs56109847 Germline - 0.08 (cases); 0.05 (controls) -BspCNI, Hpy188III - - Louise Amlie-Wolf
-/. - c.*76G>A r.(?) p.(=) - - VUS g.183824557G>A g.184106769G>A - - HTR3E_000011 no homozygous cases Atanasova 2022, submitted - rs56109847 Germline - 8/83 cases IBD - - - Stefanie Schmitteckert
?/? 8 c.*115T>G r.(?) p.(=) - - VUS g.183824596T>G g.184106808T>G - - HTR3E_000012 - PubMed: Kapeller 2008 - - Germline - 0.005 (0.000-0.028) +CviKI_1, NmeAIII - - Louise Amlie-Wolf
?/? 8 c.*138C>T r.(?) p.(=) - - VUS g.183824619C>T g.184106831C>T - - HTR3E_000013 - PubMed: Kapeller 2008 - - Germline - 0.000 (0.000-0.018) -BsaWI, HpaII, MspI - - Louise Amlie-Wolf
?/? 8 c.*191T>C r.(?) p.(=) - - VUS g.183824672T>C g.184106884T>C - - HTR3E_000014 - PubMed: Kapeller 2008 - - Germline - 0.000 (0.000-0.018) - - - Louise Amlie-Wolf
?/? 8 c.*193T>C r.(?) p.(=) - - VUS g.183824674T>C g.184106886T>C - - HTR3E_000015 - Niesler-Lab Hammer Diploma Thesis 2006 - - Germline - 0.5 +Cac8I - - Louise Amlie-Wolf
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