Variant (rsID / SNP)

rs116192290

rs116192290 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMT. Location: chromosome 3, position 49,456,758. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AMTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:49456758
Cytoband: 3p21.31
HGVS: NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
Allele change: Silent

Associated conditions / phenotypes

Non-ketotic hyperglycinemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.