Variant (rsID / SNP)
rs573273215
rs573273215 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATM. Location: chromosome 15, position 45,670,570. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GATMConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:45670570
- Cytoband
- 15q21.1
- HGVS
- NM_001482.3(GATM):c.69+13C>T
- Allele change
- Silent
Associated conditions / phenotypes
Arginine:glycine amidinotransferase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
