Variant (rsID / SNP)

rs28940575

rs28940575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHLRC1. Location: chromosome 6, position 18,122,762. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NHLRC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:18122762
Cytoband: 6p22.3
HGVS: NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
Allele change: Missense_C26S

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.