Variant (rsID / SNP)

rs45466294

rs45466294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,678,437. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLCB1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:8678437
Cytoband: 20p12.3
HGVS: NM_015192.4(PLCB1):c.1167+7T>C
Allele change: Silent

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 12

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.