Variant (rsID / SNP)

rs148347249

rs148347249 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB4. Location: chromosome 20, position 9,424,868. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PLCB4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:9424868
Cytoband: 20p12.2
HGVS: NM_001377142.1(PLCB4):c.2858C>A (p.Ser953Tyr)
Allele change: Missense_S953Y

Associated conditions / phenotypes

Auriculocondylar syndrome 2

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.