All variants in the AMT gene

Information The variants shown are described using the NM_000481.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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     
+/+ 8 c.959G>A r.(959g>a) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 9 GCE patients PubMed: Nanao et al. 1994, PubMed: Toone et al. 2000, PubMed: Toone et al. 2001 - rs121964985 SUMMARY record yes - - 0 - Anne Polvi
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T - - AMT_000024 - - - - Germline yes - - 0 - Johan Van Hove
+/. - c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T AMT(NM_000481.3):c.959G>A (p.(Arg320His), p.R320H) - AMT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T g.49417892C>T AMT(NM_000481.3):c.959G>A (p.(Arg320His), p.R320H) - AMT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.959G>A r.(?) p.(Arg320His) - pathogenic g.49455325C>T - AMT(NM_000481.3):c.959G>A (p.(Arg320His), p.R320H) - AMT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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