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Variant (rsID / SNP)

rs139599307

GATM

rs139599307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATM. Location: chromosome 15, position 45,656,996. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GATMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:45656996
Cytoband
15q21.1
HGVS
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
Allele change
Synonymous_D218D

Associated conditions / phenotypes

Arginine:glycine amidinotransferase deficiency|History of neurodevelopmental disorder

Public references

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