Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141433824

PLCB1

rs141433824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,737,719. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PLCB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:8737719
Cytoband
20p12.3
HGVS
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp)
Allele change
Missense_E850D

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.