Variant (rsID / SNP)

rs41275590

rs41275590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,862,593. Clinical significance in the table: Likely benign.

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Reference-table entries

PLCB1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:8862593
Cytoband: 20p12.3
HGVS: NM_015192.4(PLCB1):c.*97A>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.