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Variant (rsID / SNP)

rs148564534

GATM

rs148564534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATM. Location: chromosome 15, position 45,661,601. 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
15:45661601
Cytoband
15q21.1
HGVS
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
Allele change
Missense_T7M

Associated conditions / phenotypes

History of neurodevelopmental disorder|Arginine:glycine amidinotransferase deficiency|Intellectual disability

Public references

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