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.302C>T r.302c>u p.Ala101Val - pathogenic g.178360822G>A g.177439668G>A - - AGA_000010 1 Italian (hom) and 1 English (com-het) AGU patient PubMed: Ikonen et al. 1991, PubMed: Park et al. 1993 - rs121964908 SUMMARY record yes - - - - Anne Polvi
+?/. - c.302C>T r.(?) p.(Ala101Val) - likely pathogenic g.178360822G>A g.177439668G>A AGA(NM_000027.3):c.302C>T (p.A101V) - AGA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.302C>T r.(?) p.(Ala101Val) - likely pathogenic g.178360822G>A g.177439668G>A - - AGA_000010 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121964908 Germline - 5/2795 individuals - 0 - Mohammed Faruq
Legend   How to query