Variant (rsID / SNP)

rs189174414

rs189174414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1A. Location: chromosome 11, position 68,548,202. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CPT1ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:68548202
Cytoband: 11q13.3
HGVS: NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
Allele change: Missense_K455T

Associated conditions / phenotypes

Carnitine palmitoyl transferase 1A 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.