Variant (rsID / SNP)
rs117711892
rs117711892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PC. Location: chromosome 11, position 66,639,263. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PCBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:66639263
- Cytoband
- 11q13.2
- HGVS
- NM_001040716.2(PC):c.216G>A (p.Thr72=)
- Allele change
- Synonymous_T72T
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.