Variant (rsID / SNP)

rs61747405

rs61747405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPT1C. Location: chromosome 19, position 50,212,024. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CPT1CBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:50212024
Cytoband: 19q13.33
HGVS: NM_001199753.2(CPT1C):c.1494C>T (p.Asp498=)
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.