Variant (rsID / SNP)
rs371511930
rs371511930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,399,596. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GAMTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:1399596
- Cytoband
- 19p13.3
- HGVS
- NM_000156.6(GAMT):c.328-10C>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.