Variant #0000684747 (NC_000003.11:g.49568275G>A, DAG1(NM_001165928.3):c.331G>A)

Individual ID 00308700
Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49568275G>A
DNA change (hg38) g.49530842G>A
Published as -
ISCN -
DB-ID DAG1_000033 See all 2 reported entries
Variant remarks classification based on frequency in 305 unrelated individuals
Reference PubMed: Le 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency frequency 0.014
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00211 View details
Owner Global Variome, with Curator vacancy
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     
DAG1 NM_001165928.3 -/. - c.331G>A r.(?) p.(Asp111Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000309845 DNA SEQ;SEQ-NG - 105 WGS/200 WES DAG1 1 Global Variome, with Curator vacancy