Variant #0000436010 (NC_000003.11:g.49569424A>C, DAG1(NM_001165928.3):c.1480A>C)

Individual ID 00205409
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.49569424A>C
DNA change (hg38) g.49531991A>C
Published as -
ISCN -
DB-ID DAG1_000013
Variant remarks 1 heterozygote, 8 homozygotes
Reference PubMed: Concolino 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 17/106 chromosomes
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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.1480A>C r.(?) p.(Asn494His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206437 DNA SEQ - - DAG1 1 Johan den Dunnen