Variant (rsID / SNP)
rs750899949
rs750899949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,285,251. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
EFHC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:52285251
- Cytoband
- 6p12.2
- HGVS
- NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala)
- Allele change
- Missense_T15A
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.