All variants in the AMT gene

Information The variants shown are described using the NM_000481.3 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     
+/. 6_6i c.695_696+33delinsGGCTGTACAGA r.spl? p.(Asp229Glyfs*10) - pathogenic g.49456660_49456694delinsTCTGTACAGCC g.49419227_49419261delinsTCTGTACAGCC 695_696+33del35insGGCTGTACAGA - AMT_000053 - - - - Germline yes - - 0 - Johan Van Hove
Legend   How to query