All variants in the AGL gene

Information The variants shown are described using the NM_000642.2 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     
+/. 9 c.1183C>T r.(1183c>u) p.(Gln395*) - pathogenic g.100340810C>T g.99875254C>T - - AGL_000019 - - - - Germline/De novo (untested) ? - - 0 - François Petit
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