Variant (rsID / SNP)

rs515726174

rs515726174 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,675,987. The table records no clinical significance for this variant.

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Reference-table entries

CPT2Not classified

Variant type: single nucleotide variant
Chromosome / position: 1:53675987
Cytoband: 1p32.3
HGVS: NM_000098.3(CPT2):c.641T>C (p.Met214Thr)
Allele change: Missense_M214T

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.