All variants in the AGA gene

Information The variants shown are described using the NM_000027.3 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     
+/+ 7 c.788del r.788delu p.Leu263* - pathogenic g.178355555del g.177434401del delta T788 - AGA_000023 1 Mauritanian AGU patient (hom) PubMed: Park et al. 1996 - - SUMMARY record yes - - - - Anne Polvi
Legend   How to query