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     
+/+ 2 c.125A>G r.(125a>g) p.(His42Arg) - pathogenic g.49459670T>C g.49422237T>C - - AMT_000005 1 Israeli-Arab GCE family (hom) PubMed: Kure et al. 1998, PubMed: Kure et al. 2006 - rs121964983 SUMMARY record yes - - 0 - Anne Polvi
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