All variants in the AGA gene

Information The variants shown are described using the NM_000027.3 transcript reference sequence.

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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     
+/+ 2 c.192T>A r.192u>a p.Cys64* - pathogenic g.178361516A>T g.177440362A>T - - AGA_000006 1 Puerto Rican AGU family PubMed: Peltola et al. 1994 - - SUMMARY record yes - - - - Anne Polvi
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