Variant #0000801300 (NC_000003.11:g.49548225G>C, DAG1(NM_001165928.3):c.258G>C)

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.49548225G>C
DNA change (hg38) -
Published as DAG1(NM_001165928.3):c.258G>C (p.L86F, p.(Leu86Phe))
ISCN -
DB-ID DAG1_000051 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0029 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAG1 NM_001165928.3 -?/. - c.258G>C r.(?) p.(Leu86Phe)