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.439T>C r.(439u>c) p.(Ser147Pro) - pathogenic g.178359967A>G g.177438813A>G - - AGA_000030 2 Qatari siblings (hom) with AGU PubMed: Opladen et al. 2014 - - SUMMARY record yes - - 0 - Anne Polvi
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