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     
+/+ 4 c.404T>C r.(404u>c) p.(Phe135Ser) - pathogenic g.178360002A>G g.177438848A>G - - AGA_000015 2 Canadian sibs (com-het) with AGU PubMed: Laitinen et al. 1997 - - SUMMARY record yes - - - - Anne Polvi
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