All transcript variants in gene AMT

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 6 c.574C>T - r.(574c>u) p.(Gln192*) g.49456815G>A g.49419382G>A - - AMT_000018 1 GCE patient (het) PubMed: Toone et al. 2000 - rs121964986 SUMMARY record yes - - 0 - Anne Polvi
+/. 6 c.574C>T - r.(?) p.(Gln192*) g.49456815G>A g.49419382G>A - - AMT_000018 - - - - Germline yes - - 0 - Johan Van Hove
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