All variants in the AGL gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/? 34 c.4529dup r.(?) p.(Tyr1510*) - pathogenic g.100387137dup g.99921581dup 4529insA (ex35) - AGL_000001 - PubMed: Shen 1997 - - Unknown - - RsaI- 0 - LOVD
+/? 34 c.4529dup r.(?) p.(Tyr1510*) - pathogenic g.100387137dup g.99921581dup 4529insA (ex35) - AGL_000001 - PubMed: Shen 1997 - - Unknown - - RsaI- 0 - LOVD
+/? 34 c.4529dup r.(?) p.(Tyr1510*) - pathogenic g.100387137dup g.99921581dup - - AGL_000001 - - - - Unknown - - - 0 - Shu Yau
+/. - c.4529dup r.(?) p.(Tyr1510Ter) - pathogenic g.100387137dup g.99921581dup AGL(NM_000028.2):c.4529dupA (p.Y1510*) - AGL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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