Variant (rsID / SNP)

rs869025188

rs869025188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NALCN. Location: chromosome 13, position 101,881,881. Clinical significance in the table: Pathogenic.

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Reference-table entries

NALCNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 13:101881881
Cytoband: 13q33.1
HGVS: NM_052867.4(NALCN):c.1489del (p.Tyr497fs)

Associated conditions / phenotypes

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1

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.