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Variant (rsID / SNP)

rs74315297

CPT2

rs74315297 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,688. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.

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Reference-table entries

CPT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; other
Variant type
single nucleotide variant
Chromosome / position
1:53676688
Cytoband
1p32.3
HGVS
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)
Allele change
Missense_F448L

Associated conditions / phenotypes

Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic 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.