Variant (rsID / SNP)

rs201135624

rs201135624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLDC. Location: chromosome 9, position 6,558,671. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GLDCConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:6558671
Cytoband: 9p24.1
HGVS: NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
Allele change: Missense_P647L

Associated conditions / phenotypes

Non-ketotic hyperglycinemia|Smith-Magenis Syndrome-like

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.