Variant (rsID / SNP)
rs371151471
rs371151471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,329,890. 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
- 6:52329890
- Cytoband
- 6p12.2
- HGVS
- NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
- Allele change
- Missense_R372W
Associated conditions / phenotypes
Juvenile myoclonic epilepsy|Epilepsy, juvenile absence, susceptibility to, 1|Myoclonic epilepsy, juvenile, susceptibility to, 1|Typical absence seizure
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.