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Variant (rsID / SNP)

rs146610181

CLN3

rs146610181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN3. Location: chromosome 16, position 28,488,944. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLN3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:28488944
Cytoband
16p12.1
HGVS
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
Allele change
Missense_H326N

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.