Variant (rsID / SNP)

rs28940589

rs28940589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PC. Location: chromosome 11, position 66,619,415. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:66619415
Cytoband: 11q13.2
HGVS: NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
Allele change: Missense_A610T

Associated conditions / phenotypes

Pyruvate carboxylase 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.