Variant (rsID / SNP)
rs121964985
rs121964985 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AMT. Location: chromosome 3, position 49,455,325. Clinical significance in the table: Pathogenic.
Reference-table entries
AMTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:49455325
- Cytoband
- 3p21.31
- HGVS
- NM_000481.4(AMT):c.959G>A (p.Arg320His)
- Allele change
- Silent
Associated conditions / phenotypes
Non-ketotic hyperglycinemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.