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.200_201del r.200_201delag p.Glu67Alafs*3 - pathogenic g.178361514_178361515del g.177440360_177440361del c.199_200delGA - AGA_000007 7 Finnish AGU families PubMed: Isoniemi et al. 1995 - - SUMMARY record yes - - - - Anne Polvi
+/. - c.200_201del r.(?) p.(Glu67AlafsTer3) - pathogenic g.178361514_178361515del g.177440360_177440361del AGA(NM_000027.3):c.200_201delAG (p.E67Afs*3) - AGA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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