Full data view for gene AMT

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

3 entries on 1 page. Showing entries 1 - 3.
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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.212A>C - r.(212a>c) p.(His71Pro) Unknown g.49459583T>G g.49422150T>G - - AMT_000010 1 Caucasian GCE family (P75; com-het) PubMed: Kure et al. 2006 - rs149105054 SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.212A>C - r.(?) p.(His71Pro) Parent #1 g.49459583T>G g.49422150T>G - - AMT_000010 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - F - Greece - - 0 - - 1 Johan Van Hove
+/. 2 c.212A>C - r.(?) p.(His71Pro) Parent #2 g.49459583T>G g.49422150T>G - - AMT_000010 - - - - Germline yes - - 0 - DNA SEQ - - GCE - - - M - United Kingdom (Great Britain) India - 0 - - 1 Johan Van Hove
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