Variant (rsID / SNP)
rs137852778
rs137852778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,318,926. Clinical significance in the table: risk factor.
Reference-table entries
EFHC1Risk factor
- Clinical significance (as recorded)
- risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:52318926
- Cytoband
- 6p12.2
- HGVS
- NM_018100.4(EFHC1):c.757G>T (p.Asp253Tyr)
- Allele change
- Missense_D253Y
Associated conditions / phenotypes
Myoclonic epilepsy, juvenile, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.