All transcript variants in gene AMT

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

8 entries on 1 page. Showing entries 1 - 8.
Legend  

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     
+/+ 8 c.887G>A - r.(887g>a) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 1 GCE patient PubMed: Toone et al. 2003 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
+/. 8 c.887G>A - r.(?) p.(Arg296His) g.49455397C>T g.49417964C>T - - AMT_000023 - - - - Germline yes - - 0 - Johan Van Hove
Legend