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Variant (rsID / SNP)

rs45608240

PLCB1

rs45608240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,698,451. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLCB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:8698451
Cytoband
20p12.3
HGVS
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys)
Allele change
Missense_Y490C

Associated conditions / phenotypes

Early Infantile Epileptic Encephalopathy, Autosomal Recessive|Developmental and epileptic encephalopathy, 12|Seizure

Public references

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