Variant #0000462474 (NC_000003.11:g.49548245T>C, DAG1(NM_001165928.3):c.278T>C)

Individual ID 00219608
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.49548245T>C
DNA change (hg38) g.49510812T>C
Published as -
ISCN -
DB-ID DAG1_000052 See all 2 reported entries
Variant remarks -
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner Madhuri Hegde
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 ?/. 2 c.278T>C r.(?) p.(Ile93Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220679 DNA SEQ;SEQ-NG - targeted gene panel - 2 Madhuri Hegde