Unique variants in the AGA gene

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

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     
+/+ 1 1 c.44T>G r.(44u>g) p.(Leu15Arg) - pathogenic g.178363486A>C g.177442332A>C - - AGA_000016 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 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
?/? 1 4 c.482G>A r.482g>a p.Arg161Gln - VUS g.178359924C>T g.177438770C>T - - AGA_000001 Finnish variant; On the same haplotype with Finnish Major mutation. PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs192195150 SUMMARY record yes - - - - Anne Polvi
+/+ 1 4 c.488G>C r.488g>c p.Cys163Ser - pathogenic g.178359918C>G g.177438764C>G AGU FIN - AGA_000002 1 more item PubMed: Ikonen et al. 1991, PubMed: Syvänen et al. 1992, PubMed: Saarela et al. 2001 - rs121964904 SUMMARY record yes - - - - Anne Polvi
+/+ 1 7 c.755G>A r.(755g>a) p.(Gly252Glu) - pathogenic g.178355587C>T g.177434433C>T - - AGA_000021 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 7 c.770C>T r.(770c>u) p.(Thr257Ile) - pathogenic g.178355572G>A g.177434418G>A - - AGA_000022 1 Finnish AGU patient (com-het) PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
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