Variant (rsID / SNP)
rs2295179
rs2295179 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB1. Location: chromosome 20, position 8,678,446. Clinical significance in the table: Benign.
Reference-table entries
PLCB1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:8678446
- Cytoband
- 20p12.3
- HGVS
- NM_015192.4(PLCB1):c.1167+16G>A
- Allele change
- Silent
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.