All variants in the AGL gene

Information The variants shown are described using the NM_000642.2 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     
+/? 3 c.256C>T r.(?) p.(Gln862*) - pathogenic g.100327232C>T g.99861676C>T - - AGL_000008 - PubMed: Shaiu 2000 - - Unknown - - - 0 - LOVD
+/. - c.256C>T r.(?) p.(Gln86*) - pathogenic (recessive) g.100327232C>T g.99861676C>T - - AGL_000008 - PubMed: Wang 2013 - - Germline - - - 0 - LOVD
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