All variants in the AMT gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.248A>G r.(?) p.(His83Arg) - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
+/. 2 c.248A>G r.(?) p.(His83Arg) - pathogenic g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - Johan Van Hove
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