All variants in the AGA gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.503G>A r.(503g>a) p.(Trp168*) - pathogenic g.178359903C>T g.177438749C>T - - AGA_000018 1 British AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+?/. - c.503G>A r.(?) p.(Trp168*) - likely pathogenic (recessive) g.178359903C>T g.177438749C>T - - AGA_000018 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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