Variant (rsID / SNP)

rs187783545

rs187783545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHLRC1. Location: chromosome 6, position 18,122,535. Clinical significance in the table: Benign.

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Reference-table entries

NHLRC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:18122535
Cytoband: 6p22.3
HGVS: NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
Allele change: Synonymous_P101P

Associated conditions / phenotypes

Lafora disease|Seizure

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.