Variant #0000462534 (NC_000003.11:g.49569398G>A, DAG1(NM_001165928.3):c.1454G>A)

Individual ID 00222282
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.49569398G>A
DNA change (hg38) g.49531965G>A
Published as -
ISCN -
DB-ID DAG1_000073
Variant remarks no second variant
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Madhuri Hegde
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 ?/. 3 c.1454G>A r.(?) p.(Ser485Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000223353 DNA SEQ;SEQ-NG - targeted gene panel - 1 Madhuri Hegde