All variants in the GJA3 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_021954.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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     
+?/. 2 c.184G>A r.(?) p.(Glu62Lys) - likely pathogenic g.20717244C>T g.20143105C>T - - GJA3_000005 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query