All variants in the AGL gene

Information The variants shown are described using the NM_000642.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) - pathogenic g.100378035dup g.99912479dup 3904insA - AGL_000005 - PubMed: Pavari 1998 - - Unknown - - - 0 - LOVD
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) - pathogenic g.100378035dup g.99912479dup - - AGL_000005 - - - - Unknown - - - 0 - Shu Yau
+/? 29 c.3911dup r.(?) p.(Asn1304LysfsTer7) - pathogenic g.100378035dup g.99912479dup - - AGL_000005 - - - - Unknown - - - 0 - Shu Yau
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