Variant #0000454960 (NC_000010.10:g.64573256C>T, EGR2(NM_000399.3):c.1142G>A)

Individual ID 00218995
Chromosome 10
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.64573256C>T
DNA change (hg38) g.62813496C>T
Published as -
ISCN -
DB-ID EGR2_000007 See all 2 reported entries
Variant remarks -
Reference PubMed: Dohrn 2017, Journal: Dohrn 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/612 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
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     
EGR2 NM_000399.3 +/. - c.1142G>A r.(?) p.(Arg381His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220067 DNA SEQ;SEQ-NG - targeted multigene panel EGR2 1 Johan den Dunnen