Variant (rsID / SNP)

rs80356775

rs80356775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1A. Location: chromosome 11, position 68,575,021. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPT1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:68575021
Cytoband: 11q13.3
HGVS: NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)
Allele change: Missense_R123C

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.