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Variant (rsID / SNP)

rs147739199

GAMT

rs147739199 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,397,488. 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
19:1397488
Cytoband
19p13.3
HGVS
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
Allele change
Missense_V194A

Associated conditions / phenotypes

History of neurodevelopmental disorder|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase

Public references

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