Variant (rsID / SNP)
rs7757370
rs7757370 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,357,260. Clinical significance in the table: Benign.
Reference-table entries
EFHC1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:52357260
- Cytoband
- 6p12.2
- HGVS
- NM_018100.4(EFHC1):c.*121C>A
- Allele change
- Silent
Associated conditions / phenotypes
Juvenile myoclonic epilepsy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.