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Variant (rsID / SNP)

rs74315296

CPT2

rs74315296 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,853. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CPT2Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:53676853
Cytoband
1p32.3
HGVS
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
Allele change
Missense_R503C

Associated conditions / phenotypes

Carnitine palmitoyl transferase II deficiency, myopathic form|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.