Variant (rsID / SNP)

rs121907889

rs121907889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNMT. Location: chromosome 6, position 42,930,887. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GNMTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:42930887
Cytoband: 6p21.1
HGVS: NM_018960.6(GNMT):c.529C>A (p.His177Asn)
Allele change: Silent

Associated conditions / phenotypes

Glycine N-methyltransferase 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.