Variant (rsID / SNP)

rs1871748

rs1871748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,679,053. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CPT2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:53679053
Cytoband: 1p32.3
HGVS: NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys)
Allele change: Missense_S588C

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.