All variants in the AGL gene

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

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Okubo 1998 - - Unknown - - - 0 - LOVD
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Okubo 1998 - - Unknown - - - 0 - LOVD
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - Shu Yau
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - Shu Yau
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - Shu Yau
+/? 31i c.4260-12A>G r.spl? p.(Phe1420Hisfs*16) - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - - - - Unknown - - - 0 - Shu Yau
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Shaiu 2000 - - Unknown - - - 0 - LOVD
+/? 31i c.4260-12A>G r.4259_4260ins4260-11_4260-1 p.Phe1420Hisfs*16 - pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 - PubMed: Shaiu 2000 - - Unknown - - - 0 - LOVD
+?/. - c.4260-12A>G r.(=) p.(=) - likely pathogenic g.100381954A>G g.99916398A>G - - AGL_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs369973784 Germline - 1/2788 individuals - 0 - Mohammed Faruq
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