Variant (rsID / SNP)

rs151214012

rs151214012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RBFOX1. Location: chromosome 16, position 7,568,263. Clinical significance in the table: Likely benign.

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Reference-table entries

RBFOX1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:7568263
Cytoband: 16p13.3
HGVS: NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser)
Allele change: Missense_P48S

Associated conditions / phenotypes

Idiopathic generalized epilepsy

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.