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Variant (rsID / SNP)

rs147567110

PLCB1

rs147567110 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,639,203. 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
20:8639203
Cytoband
20p12.3
HGVS
NM_015192.4(PLCB1):c.714A>C (p.Pro238=)
Allele change
Synonymous_P238P

Associated conditions / phenotypes

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.