All variants in the AGA gene

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

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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     
+/+ 8i c.940+1G>T r.[=, 935_1068del] p.[=, 935_*27del] - pathogenic g.178354367C>A g.177433213C>A GT-to-TT transversion at the splice donor site of intron 8 - AGA_000027 1 African-American AGU patient (hom); Mutation almost completely eliminate splicing at the exon 8/intron 8 border and causes exon 8 skipping. PubMed: Fisher et al. 1991 - - SUMMARY record yes - - - - Anne Polvi
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