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     
?/. - c.1759C>T r.(?) p.(His587Tyr) - VUS g.100346211C>T g.99880655C>T - - AGL_000070 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139488862 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1759C>T r.(?) p.(His587Tyr) - VUS g.100346211C>T - - - AGL_000070 - - - rs139488862 Unknown - - - 0 - MobiDetails
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