Variant #0000436036 (NC_000003.11:g.49547561T>G, DAG1(NM_001165928.3):c.-116-291T>G)

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.49547561T>G
DNA change (hg38) g.49510128T>G
Published as -
ISCN -
DB-ID DAG1_000010
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs7622302
Origin Germline
Segregation -
Frequency 0.07-0.21
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 ?/. 4i c.-116-291T>G r.(?) p.(=)