Variant (rsID / SNP)
rs14056
rs14056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRICKLE2. Location: chromosome 3, position 64,080,489. Clinical significance in the table: Benign.
Reference-table entries
PRICKLE2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:64080489
- Cytoband
- 3p14.1
- HGVS
- NM_198859.4(PRICKLE2):c.*4238C>T
- Allele change
- Silent
Associated conditions / phenotypes
Progressive myoclonic epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.