All variants in the AMT gene

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/+ 4 c.452_466del r.(452_466del) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del - - AMT_000015 1 Caucasian GCE family (P61; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 4 c.452_466del r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del 452_466del15 - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_466del r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del 452_466del15 - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_466del r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del 452_466del15 - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_466del r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del - - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_466del r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del - - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
+/. 4 c.452_466del r.(?) p.(Lys151_Leu155del) - pathogenic g.49457650_49457664del g.49420217_49420231del 452_466del15 - AMT_000015 - - - - Germline yes - - 0 - Johan Van Hove
?/. - c.452_466del r.(?) p.(Lys151_Leu155del) - VUS g.49457650_49457664del - AMT(NM_000481.3):c.452_466delAAGATTTGGCCCTCA (p.K151_L155del) - AMT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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