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     
+/+ 8 c.970_972del r.(?) p.(Met324del) - pathogenic g.49455314_49455316del g.49417881_49417883del c.970_972delATG: 320Met Deletion - AMT_000025 1 Oriental GCE family (P115; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
Legend   How to query