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Variant (rsID / SNP)

rs45464693

PLCB1

rs45464693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,755,222. 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
20:8755222
Cytoband
20p12.3
HGVS
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=)
Allele change
Synonymous_T989T

Associated conditions / phenotypes

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

Public references

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