Variant (rsID / SNP)

rs28940576

rs28940576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHLRC1. Location: chromosome 6, position 18,122,633. Clinical significance in the table: Pathogenic.

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Reference-table entries

NHLRC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:18122633
Cytoband: 6p22.3
HGVS: NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
Allele change: Missense_P69A

Associated conditions / phenotypes

Epilepsy, progressive myoclonic 2b|Lafora disease

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.