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     
+/. 2 c.178_181del r.(?) p.(Gln60Thrfs*35) - pathogenic g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.178_181del r.(?) p.(Gln60Thrfs*35) - pathogenic g.49459614_49459617del g.49422181_49422184del 178_181delCAGT - AMT_000074 - - - - Germline yes - - 0 - Johan Van Hove
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