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     
+/+ 3 c.369_373del r.369_373del p.His124Thrfs*19 - pathogenic g.178360751_178360755del g.177439597_177439601del 5 bp deletion (ACACA) nt 367-371, 367_371del: T123fsX142 - AGA_000013 1 American AGU patient PubMed: Park et al. 1993, PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
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