Variant #0000436028 (NC_000003.11:g.49568095G>A, DAG1(NM_001165928.3):c.286-135G>A)

Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.49568095G>A
DNA change (hg38) g.49530662G>A
Published as -
ISCN -
DB-ID DAG1_000003
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs2311801
Origin Germline
Segregation -
Frequency 0.00-0.11
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 ?/. 5i c.286-135G>A r.(?) p.(=)