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     
+/+ 7 c.800dup r.800dupu p.Pro268Alafs*52 - pathogenic g.178355542dup g.177434388dup ins T after T800 - AGA_000024 1 Spanish-American AGU patient PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - - - Anne Polvi
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