Variant #0000698785 (NC_000003.11:g.183754278C>G, HTR3D(NM_182537.2):c.91C>G)

Individual ID 00315454
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.183754278C>G
DNA change (hg38) g.184036490C>G
Published as p.P31A
ISCN -
DB-ID HTR3D_000003
Variant remarks -
Reference Niesler-Lab Kapeller PhD Thesis 2009
ClinVar ID -
dbSNP ID rs73183412
Origin Germline
Segregation -
Frequency 0.065 (0.034-0.111)
Re-site +AciI; -BslI
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.07292 View details
Owner Louise Amlie-Wolf
Database submission license No license selected
Created by Louise Amlie-Wolf
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
HTR3D NM_182537.2 ?/? 3 c.91C>G r.(?) p.(Pro31Ala) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316630 DNA SEQ blood - HTR3D 1 Louise Amlie-Wolf