Variant (rsID / SNP)
rs28940591
rs28940591 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PC. Location: chromosome 11, position 66,638,839. Clinical significance in the table: Pathogenic.
Reference-table entries
PCPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:66638839
- Cytoband
- 11q13.2
- HGVS
- NM_001040716.2(PC):c.434T>C (p.Val145Ala)
- Allele change
- Missense_V145A
Associated conditions / phenotypes
Pyruvate carboxylase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.