Variant #0000698793 (NC_000003.11:g.183756837delinsTGTCAGTCCAAATT, HTR3D(NM_182537.2):c.*74delinsTGTCAGTCCAAATT)

Individual ID 00315462
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.183756837delinsTGTCAGTCCAAATT
DNA change (hg38) g.184039049delinsTGTCAGTCCAAATT
Published as *74delGinsTGTCAGTCCAAATT
ISCN -
DB-ID HTR3D_000008
Variant remarks -
Reference Niesler-Lab Kapeller PhD Thesis 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0.326 (0.259-0.399)
Re-site +ApoI, CviAII, FatI, MluCI, NlaIII; -BspCNI, DdeI
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 ?/? 8 c.*74delinsTGTCAGTCCAAATT r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316638 DNA SEQ blood - HTR3D 1 Louise Amlie-Wolf