Variant (rsID / SNP)
rs140958507
rs140958507 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1A. Location: chromosome 11, position 68,562,288. Clinical significance in the table: Benign.
Reference-table entries
CPT1ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:68562288
- Cytoband
- 11q13.3
- HGVS
- NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)
- Allele change
- Missense_R288Q
Associated conditions / phenotypes
Carnitine palmitoyl transferase 1A deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.