Full data view for gene AMT

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)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2 c.248A>G - r.(?) p.(His83Arg) Parent #1 g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) Parent #1 g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) Parent #2 g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
+/. 2 c.248A>G - r.(?) p.(His83Arg) Parent #2 g.49459547T>C g.49422114T>C - - AMT_000073 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Portugal - - 0 - - 1 Johan Van Hove
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