All variants in the AGL gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+?/. - c.958+1G>A r.spl p.? - pathogenic (recessive) g.100336426G>A g.99870870G>A - - AGL_000056 in trans with c.1019delA - ClinVar-RCV000664741.1 rs1553184657 Germline - - - 0 - Jorge Docampo Cordeiro
Legend   How to query