Variant (rsID / SNP)

rs386833536

rs386833536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,558,659. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GLDCLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:6558659
Cytoband: 9p24.1
HGVS: NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
Allele change: Missense_H651R

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.