Variant (rsID / SNP)

rs370421531

rs370421531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GAMT. Location: chromosome 19, position 1,398,963. Clinical significance in the table: Pathogenic.

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Reference-table entries

GAMTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:1398963
Cytoband: 19p13.3
HGVS: NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
Allele change: Nonsense_W174X

Associated conditions / phenotypes

Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome

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.