Variant (rsID / SNP)

rs75187722

rs75187722 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPRL3. Location: chromosome 16, position 180,529. Clinical significance in the table: Benign.

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Reference-table entries

NPRL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:180529
Cytoband: 16p13.3
HGVS: NM_001077350.3(NPRL3):c.180C>T (p.Gly60=)
Allele change: Synonymous_G60G

Associated conditions / phenotypes

Epilepsy, familial focal, with variable foci 3

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.