Variant (rsID / SNP)

rs200190780

rs200190780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1C. Location: chromosome 19, position 50,216,032. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CPT1CUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:50216032
Cytoband: 19q13.33
HGVS: NM_001199753.2(CPT1C):c.2059C>G (p.Pro687Ala)
Allele change: Silent

Associated conditions / phenotypes

Hereditary spastic paraplegia 73

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.