All transcript variants in gene AMT

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.808_811delinsAGAG - r.(?) p.(Leu270_Cys271delinsArgGly) g.49456470_49456473delinsCTCT g.49419037_49419040delinsCTCT 808_811del4insAGAG - AMT_000048 - - - - Germline yes - - 0 - Johan Van Hove
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