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     
-/. - c.631G>A r.(?) p.(Glu211Lys) - benign g.49456758C>T g.49419325C>T AMT(NM_000481.3):c.631G>A (p.(Glu211Lys), p.E211K) - AMT_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.631G>A r.(?) p.(Glu211Lys) - likely benign g.49456758C>T g.49419325C>T AMT(NM_000481.3):c.631G>A (p.(Glu211Lys), p.E211K) - AMT_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.631G>A r.(?) p.(Glu211Lys) - benign g.49456758C>T g.49419325C>T AMT(NM_000481.3):c.631G>A (p.(Glu211Lys), p.E211K) - AMT_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.631G>A r.(?) p.(Glu211Lys) - likely benign g.49456758C>T g.49419325C>T - - AMT_000092 73 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116192290 Germline - 73/2795 individuals - 0 - Mohammed Faruq
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