Variant (rsID / SNP)

rs387907126

rs387907126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRRT2. Location: chromosome 16, position 29,825,093. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRRT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:29825093
Cytoband: 16p11.2
HGVS: NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)
Allele change: Nonsense_R240X

Associated conditions / phenotypes

Infantile convulsions and choreoathetosis|Episodic kinesigenic dyskinesia|Episodic kinesigenic dyskinesia 1|Seizures, benign familial infantile, 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.