All variants in the EGR2 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000399.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.1226G>A r.(?) p.(Arg409Gln) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - Sarah El-Bestawi
+/. - c.1226G>A r.(?) p.(Arg409Gln) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - Sarah El-Bestawi
+/. - c.1226G>A r.(?) p.(Arg409Gln) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - Sarah El-Bestawi
+/. - c.1226G>A r.(?) p.(Arg409Gln) - pathogenic (dominant) g.64573172C>T g.62813412C>T - - EGR2_000022 - PubMed: Sevilla 2015 - - Germline yes - - 0 - Sarah El-Bestawi
Legend   How to query