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     
+/+ 8 c.916T>C r.916u>c p.Cys306Arg - pathogenic g.178354392A>G g.177433238A>G - - AGA_000026 1 American AGU patient (hom) PubMed: Ikonen et al. 1991 - rs121964906 SUMMARY record yes - - - - Anne Polvi
Legend   How to query