Variant #0000833038 (NC_000003.11:g.49568281_49568284del, DAG1(NM_001165928.3):c.337_340del)

Individual ID 00398986
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49568281_49568284del
DNA change (hg38) g.49530848_49530851del
Published as -
ISCN -
DB-ID DAG1_000111
Variant remarks -
Reference PubMed: Gonzalez-Quereda 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
DAG1 NM_001165928.3 +?/. - c.337_340del r.(?) p.(Gln113AlafsTer20)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400231 DNA SEQ;SEQ-NG - 166-gene panel - 2 Johan den Dunnen