All variants in the AMT gene

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

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
+/. 8i c.1034+1G>C r.spl p.? - pathogenic g.49455150C>G g.49417717C>G IVS8+1G>C - AMT_000078 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Germline yes - - 0 - Johan Van Hove
+/. 8i c.1034+1G>C r.spl p.? - pathogenic g.49455150C>G g.49417717C>G IVS8+1G>C - AMT_000078 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - Germline yes - - 0 - Johan Van Hove
Legend   How to query