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Variant (rsID / SNP)

rs74315293

CPT2

rs74315293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,679,181. Clinical significance in the table: Pathogenic.

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Reference-table entries

CPT2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:53679181
Cytoband
1p32.3
HGVS
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)
Allele change
Missense_R631C

Associated conditions / phenotypes

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

Public references

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