Variant (rsID / SNP)

rs708910

rs708910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,864,203. 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: 20:8864203
Cytoband: 20p12.3
HGVS: NM_015192.4(PLCB1):c.*1707A>G
Allele change: Silent

Associated conditions / phenotypes

Early Infantile Epileptic Encephalopathy, Autosomal Recessive

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.