Variant (rsID / SNP)

rs368311455

rs368311455 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,857. 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: 1:53676857
Cytoband: 1p32.3
HGVS: NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
Allele change: Missense_P504L

Associated conditions / phenotypes

Carnitine palmitoyltransferase II deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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