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Variant (rsID / SNP)

rs397509431

CPT2

rs397509431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,584. Clinical significance in the table: Pathogenic.

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Reference-table entries

CPT2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
1:53676584
Cytoband
1p32.3
HGVS
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)

Associated conditions / phenotypes

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