All variants in the AMT gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.230C>T r.(230c>u) p.(Ser77Leu) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 1 Caucasian GCE family (P21; hom) PubMed: Kure et al. 2006 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 2 c.230C>T r.(?) p.(Ser77Leu) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.230C>T r.(?) p.(Ser77Leu) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.230C>T r.(?) p.(Ser77Leu) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.230C>T r.(?) p.(Ser77Leu) - pathogenic g.49459565G>A g.49422132G>A - - AMT_000012 - - - - Germline yes - - 0 - Johan Van Hove
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