Variant #0000608773 (NC_000003.11:g.49568543C>G, DAG1(NM_001165928.3):c.599C>G)

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.49568543C>G
DNA change (hg38) g.49531110C>G
Published as DAG1(NM_001165928.3):c.599C>G (p.T200S)
ISCN -
DB-ID DAG1_000035 See all 5 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) 0.00201 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DAG1 NM_001165928.3 -?/. - c.599C>G r.(?) p.(Thr200Ser)