Variant #0000698789 (NC_000003.11:g.183755822G>A, HTR3D(NM_182537.2):c.155G>A)

Individual ID 00315458
Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.183755822G>A
DNA change (hg38) g.184038034G>A
Published as p.H52R; c.380G>A
ISCN -
DB-ID HTR3D_000006 See all 3 reported entries
Variant remarks -
Reference PubMed: Hammer 2010
ClinVar ID -
dbSNP ID rs1000952
Origin Germline
Segregation -
Frequency 0.338 (0.274–0.408)
Re-site -BfuAI, BspMI, HhaI, HinP1I
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.65809 View details
Owner Louise Amlie-Wolf
Database submission license No license selected
Created by Louise Amlie-Wolf
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
HTR3D NM_182537.2 ?/? 4 c.155G>A r.(?) p.(Arg52His) N-term, Cys-loop



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316634 DNA SEQ blood - HTR3D 1 Louise Amlie-Wolf