Variant (rsID / SNP)

rs368974196

rs368974196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GATM. Location: chromosome 15, position 45,656,084. 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: 15:45656084
Cytoband: 15q21.1
HGVS: NM_001482.3(GATM):c.1159+14A>G
Allele change: Silent

Associated conditions / phenotypes

Arginine:glycine amidinotransferase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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