All variants in the AGA gene

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

1 entry on 1 page. Showing entry 1.
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     
+?/+? 9 c.1000G>T r.(1000g>u) p.(Glu334*) - likely pathogenic g.178352903C>A g.177431749C>A - - AGA_000032 1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear PubMed: Saarela et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
Legend   How to query