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Variant (rsID / SNP)

rs147655952

PLCB4

rs147655952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLCB4. Location: chromosome 20, position 9,360,789. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PLCB4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:9360789
Cytoband
20p12.2
HGVS
NM_001377142.1(PLCB4):c.833A>T (p.Asp278Val)
Allele change
Missense_D278V

Associated conditions / phenotypes

Auriculocondylar syndrome 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.