Variant #0000436015 (NC_000003.11:g.49569068C>G, DAG1(NM_001165928.3):c.1124C>G)

Individual ID 00205414
Chromosome 3
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49569068C>G
DNA change (hg38) g.49531635C>G
Published as A375G
ISCN -
DB-ID DAG1_000016
Variant remarks 1 heterozygote, 1 homozygote
Reference PubMed: Concolino 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/106 chromosomes
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 -?/. 6 c.1124C>G r.(?) p.(Ala375Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206442 DNA SEQ - - DAG1 1 Johan den Dunnen