Variant (rsID / SNP)

rs121964979

rs121964979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,595,109. 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: 9:6595109
Cytoband: 9p24.1
HGVS: NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)
Allele change: Missense_A389V

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.