Variant (rsID / SNP)

rs1799821

rs1799821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT2. Location: chromosome 1, position 53,676,448. Clinical significance in the table: Benign.

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Reference-table entries

CPT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:53676448
Cytoband: 1p32.3
HGVS: NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)
Allele change: Missense_V368I

Associated conditions / phenotypes

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

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.