Variant (rsID / SNP)

rs2235613

rs2235613 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,755,243. Clinical significance in the table: Benign.

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Reference-table entries

PLCB1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 20:8755243
Cytoband: 20p12.3
HGVS: NM_015192.4(PLCB1):c.2988T>C (p.Ala996=)
Allele change: Synonymous_A996A

Associated conditions / phenotypes

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

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.