Variant (rsID / SNP)

rs386833517

rs386833517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,604,637. Clinical significance in the table: Pathogenic.

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Reference-table entries

GLDCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:6604637
Cytoband: 9p24.1
HGVS: NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
Allele change: Nonsense_R337X

Associated conditions / phenotypes

Non-ketotic hyperglycinemia

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.