Variant (rsID / SNP)

rs191905539

rs191905539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,610,328. 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: 9:6610328
Cytoband: 9p24.1
HGVS: NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
Allele change: Nonsense_E167X

Associated conditions / phenotypes

Non-ketotic hyperglycinemia|Inborn genetic diseases

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.