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     
+/+ 1 c.34G>T r.(34g>u) p.(Val12Leu) - pathogenic g.178363496C>A g.177442342C>A c.34G>T - AGA_000012 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 - rs74626221 SUMMARY record yes - - - - Anne Polvi
-?/. - c.34G>T r.(?) p.(Val12Leu) - likely benign g.178363496C>A g.177442342C>A - - AGA_000012 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74626221 Germline - 11/2794 individuals - 0 - Mohammed Faruq
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