Variant (rsID / SNP)
rs80338735
rs80338735 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,399,792. Clinical significance in the table: Pathogenic.
Reference-table entries
GAMTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:1399792
- Cytoband
- 19p13.3
- HGVS
- NM_000156.6(GAMT):c.327G>A (p.Lys109_Val110=)
- Allele change
- Synonymous_K109K
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.