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Variant (rsID / SNP)

rs200500835

GAMT

rs200500835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,399,190. 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
19:1399190
Cytoband
19p13.3
HGVS
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
Allele change
Synonymous_I132I

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.