Variant (rsID / SNP)
rs147945506
rs147945506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PC. Location: chromosome 11, position 66,638,540. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PCConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:66638540
- Cytoband
- 11q13.2
- HGVS
- NM_001040716.2(PC):c.616G>T (p.Val206Leu)
- Allele change
- Missense_V206L
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.