Variant #0000698784 (NC_000003.11:g.183752989A>T, HTR3D(NM_182537.2):c.-53A>T)

Individual ID 00315453
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.183752989A>T
DNA change (hg38) g.184035201A>T
Published as -
ISCN -
DB-ID HTR3D_000002
Variant remarks -
Reference Niesler-Lab Kapeller PhD Thesis 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0 (0.000-0.020)
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0007 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 ?/? 2 c.-53A>T r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316629 DNA SEQ blood - HTR3D 1 Louise Amlie-Wolf