Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

GAMT

guanidinoacetate N-methyltransferase

Chromosome
19
Cytoband
19p13.3
Variants (rsID)
12

GAMT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.3). Its official name is “guanidinoacetate N-methyltransferase”. The reference table lists 12 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

9 reference-table entries with clinical significance.

  • rs192416474Benignsingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome
  • rs147739199Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase
  • rs200500835Conflicting interpretationssingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome
  • rs200833152Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Guanidinoacetate methyltransferase (GAMT) deficiency|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase|Intellectual disability
  • rs371511930Conflicting interpretationssingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome
  • rs568392459Conflicting interpretationssingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|History of neurodevelopmental disorder|Cerebral creatine deficiency syndrome
  • rs77168423Conflicting interpretationssingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome
  • rs370421531Pathogenicsingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome
  • rs80338735Pathogenicsingle nucleotide variantDeficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.