Variant (rsID / SNP)
rs121964976
rs121964976 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,589,230. Clinical significance in the table: Pathogenic.
Reference-table entries
GLDCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:6589230
- Cytoband
- 9p24.1
- HGVS
- NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
- Allele change
- Missense_R515S
Associated conditions / phenotypes
Non-ketotic hyperglycinemia|Generalized epilepsy|Global developmental delay|Obesity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.