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.

2 entries on 1 page. Showing entries 1 - 2.
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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.1234G>A r.(?) p.(Glu412Lys) - pathogenic g.64573164C>T g.62813404C>T EGR2(NM_000399.3):c.1234G>A (p.E412K) - EGR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. 2 c.1234G>A r.(?) p.(Glu412Lys) ACMG likely pathogenic (dominant) g.64573164C>T - - - EGR2_000004 ACMG class 4: PS3_moderat, PM1, PM2, PP3 - - - Germline ? - - - - Andreas Laner
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