Variant (rsID / SNP)

rs386833690

rs386833690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMT. Location: chromosome 3, position 49,455,397. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AMTPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:49455397
Cytoband: 3p21.31
HGVS: NM_000481.4(AMT):c.887G>A (p.Arg296His)
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.