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Variant (rsID / SNP)

rs80356774

CPT1A

rs80356774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1A. Location: chromosome 11, position 68,575,090. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CPT1APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:68575090
Cytoband
11q13.3
HGVS
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
Allele change
Nonsense_Q100X

Associated conditions / phenotypes

Carnitine palmitoyl transferase 1A deficiency

Public references

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