All variants in the AMT gene

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

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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     
+/+ 5 c.535del r.(?) p.(Leu179Cysfs*2) - pathogenic g.49457160del g.49419727del - - AMT_000017 1 Oriental GCE family (P91; com-het) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
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