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Variant (rsID / SNP)

rs200833152

GAMT

rs200833152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,401,397. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GAMTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:1401397
Cytoband
19p13.3
HGVS
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
Allele change
Missense_Y27H

Associated conditions / phenotypes

History of neurodevelopmental disorder|Guanidinoacetate methyltransferase (GAMT) deficiency|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase|Intellectual disability

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.