Variant (rsID / SNP)

rs80356779

rs80356779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1A. Location: chromosome 11, position 68,548,130. Clinical significance in the table: Pathogenic.

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Reference-table entries

CPT1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:68548130
Cytoband: 11q13.3
HGVS: NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
Allele change: Missense_P479L

Associated conditions / phenotypes

Carnitine palmitoyl transferase 1A deficiency|CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM|CPT1A ARCTIC VARIANT

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.