Variant (rsID / SNP)

rs1266787

rs1266787 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFHC1. Location: chromosome 6, position 52,343,899. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EFHC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:52343899
Cytoband: 6p12.2
HGVS: NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
Allele change: Missense_M448T

Associated conditions / phenotypes

Juvenile myoclonic epilepsy|Typical absence seizure|Myoclonic epilepsy, juvenile, susceptibility to, 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.