All variants in the AMT gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 7 c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove
+/. 7 c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove
+/. 7 c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove
+/. 7 c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove
+/. 7 c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove
+/. - c.794G>A r.(?) p.(Arg265His) - pathogenic g.49456487C>T g.49419054C>T AMT(NM_000481.3):c.794G>A (p.R265H) - AMT_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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