Variant #0000436014 (NC_000003.11:g.49568686G>C, DAG1(NM_001165928.3):c.742G>C)

Individual ID 00205413
Chromosome 3
Allele Unknown
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.49568686G>C
DNA change (hg38) g.49531253G>C
Published as 1136C>G (P248A)
ISCN -
DB-ID DAG1_000015 See all 2 reported entries
Variant remarks -
Reference PubMed: Gotlieb 2005
ClinVar ID -
dbSNP ID -
Origin Unknown
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 -?/. 6 c.742G>C r.(?) p.(Ala248Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206441 DNA SEQ - - DAG1 1 Johan den Dunnen