Variant (rsID / SNP)

rs28936674

rs28936674 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,675,866. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CPT2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:53675866
Cytoband: 1p32.3
HGVS: NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
Allele change: Missense_E174K

Associated conditions / phenotypes

Carnitine palmitoyl transferase II deficiency, severe infantile form|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.