All variants in the AGA gene

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

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.336del r.336del p.Ile112Metfs*16 - pathogenic g.178360789del g.177439635del - - AGA_000011 1 Dutch AGU patient PubMed: Ikonen et al. 1991 - - SUMMARY record yes - - - - Anne Polvi
+?/. - c.336del r.(?) p.(Ile112MetfsTer16) - likely pathogenic g.178360789del g.177439635del AGA(NM_000027.3):c.336delT (p.I112Mfs*16) - AGA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.336del r.(?) p.(Ile112MetfsTer16) - pathogenic g.178360789del g.177439635del AGA(NM_000027.3):c.336delT (p.I112Mfs*16) - AGA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend   How to query