Variant #0000436037 (NC_000003.11:g.49568519C>T, DAG1(NM_001165928.3):c.575C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.49568519C>T
DNA change (hg38) g.49531086C>T
Published as -
ISCN -
DB-ID DAG1_000011 See all 3 reported entries
Variant remarks expression cloning (DAG1 negative cells) shows impaired post-translational modification, reduced laminin binding, no co-IP LARGE
Reference PubMed: Hara 2011
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAG1 NM_001165928.3 +/. 6 c.575C>T r.(575c>u) p.Thr192Met