Variant (rsID / SNP)

rs886041874

rs886041874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PHGDH. Location: chromosome 1, position 120,263,946. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PHGDHPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:120263946
Cytoband: 1p12
HGVS: NM_006623.4(PHGDH):c.290+2T>C
Allele change: Silent

Associated conditions / phenotypes

Epileptic encephalopathy|Seizure|PHGDH deficiency

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.