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Variant (rsID / SNP)

rs17848485

CPT2

rs17848485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,980. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CPT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:53676980
Cytoband
1p32.3
HGVS
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)
Allele change
Missense_E545A

Associated conditions / phenotypes

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

Public references

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