Unique variants in the HTR3C gene

University of Heidelberg Serotonin receptor variant database
Information The variants shown are described using the NM_130770.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+, -/., ?/? 6 5 c.489C>A r.(?) p.(Asn163Lys) N-term, Cys-loop - association, benign, VUS g.183774762C>A g.184056974C>A N163K (523C>A), p.N163K; (c.523C>A), p.N163K; rs6766410 - HTR3C_000001 decreased receptor density at cell surface (85% of control) Atanasova 2022, submitted, Kapeller meeting abstract DDW 2009, PubMed: Fasching 2008, 2 more items - rs6766410 Germline - 0.38, 0.38 (0.31-0.45), 0.42, 18/83 cases IBD, 29/83 cases IBD +BsrI; -Hpy166II, BssKI, BstNI, PspGI, ScrFI, StyD4I - - Louise Amlie-Wolf, Stefanie Schmitteckert
?/? 3 9 c.1214G>C r.(?) p.(Gly405Ala) LIL - VUS g.183778010G>C g.184060222G>C p.A405G; (c.1248G>C) - HTR3C_000002 - PubMed: Fasching 2008, PubMed: Göcke 2009, PubMed: Rehnstrom 2009 - rs6807362 Germline - 0.42, 0.46, 0.47 +BlpI; -CviAII, FatI, NlaIII, Bpu10I, BtsCI, FokI, Hpy188III - - Louise Amlie-Wolf
?/? 1 9 c.*158G>A r.(?) p.(=) - - VUS g.183778298G>A g.184060510G>A - - HTR3C_000003 - PubMed: Göcke 2009 - rs6807670 Germline - 0.42 -BsmFI - - Louise Amlie-Wolf
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