Variant (rsID / SNP)
rs192416474
rs192416474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,399,201. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
GAMTBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:1399201
- Cytoband
- 19p13.3
- HGVS
- NM_000156.6(GAMT):c.392-7C>T
- Allele change
- Silent
Associated conditions / phenotypes
Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.