Variant (rsID / SNP)

rs200201752

rs200201752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHLRC1. Location: chromosome 6, position 18,121,696. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NHLRC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:18121696
Cytoband: 6p22.3
HGVS: NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)
Allele change: Missense_D381G

Associated conditions / phenotypes

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.