Variant (rsID / SNP)

rs200413149

rs200413149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,604,760. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GLDCUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:6604760
Cytoband: 9p24.1
HGVS: NM_000170.3(GLDC):c.886C>T (p.Leu296Phe)
Allele change: Missense_L296I

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.