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Variant (rsID / SNP)

rs140383655

PRRT2

rs140383655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRRT2. Location: chromosome 16, position 29,824,442. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRRT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:29824442
Cytoband
16p11.2
HGVS
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
Allele change
Missense_E23K

Associated conditions / phenotypes

History of neurodevelopmental disorder|Episodic kinesigenic dyskinesia

Public references

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