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     
+/+ 2 c.179G>A r.179g>a p.Gly60Asp - pathogenic g.178361529C>T g.177440375C>T - - AGA_000005 1 German AGU patient PubMed: Ikonen et al. 1991 - rs121964907 SUMMARY record yes - - - - Anne Polvi
+?/. - c.179G>A r.(?) p.(Gly60Asp) - likely pathogenic g.178361529C>T g.177440375C>T AGA(NM_000027.3):c.179G>A (p.G60D) - AGA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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