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Variant (rsID / SNP)

rs2229291

CPT2

rs2229291 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,401. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CPT2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:53676401
Cytoband
1p32.3
HGVS
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
Allele change
Missense_F352C

Associated conditions / phenotypes

Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.