Variant #0000079189 (NC_000003.11:g.183752964A>C, HTR3D(NM_182537.2):c.-78A>C)

Individual ID 00050292
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification association
DNA change (genomic) (Relative to hg19 / GRCh37) g.183752964A>C
DNA change (hg38) g.184035176A>C
Published as -
ISCN -
DB-ID HTR3D_000001 See all 3 reported entries
Variant remarks association variant/phenotype uncertain
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03005 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
HTR3D NM_182537.2 +/. - c.-78A>C r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050237 DNA SEQ;SEQ-NG-I - - HTR3D 1 Johan den Dunnen