All variants in the AMT gene

Information The variants shown are described using the NM_000481.3 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     
+/+ 7i c.878-1G>A r.spl? p.? - pathogenic g.49455407C>T g.49417974C>T IVS7-1G>A - AMT_000022 5 GCE patients PubMed: Toone et al. 2001, PubMed: Toone et al. 2001 - rs181134220 SUMMARY record yes - - 0 - Anne Polvi
+/. 7i c.878-1G>A r.spl? p.(Lys294fs) - pathogenic g.49455407C>T g.49417974C>T - - AMT_000022 - - - - Germline yes - - 0 - Johan Van Hove
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