Variant (rsID / SNP)
rs386833679
rs386833679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMT. Location: chromosome 3, position 49,459,578. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
AMTPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:49459578
- Cytoband
- 3p21.31
- HGVS
- NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
- Allele change
- Silent
Associated conditions / phenotypes
Non-ketotic hyperglycinemia|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.