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Variant (rsID / SNP)

rs1142183

CLN3

rs1142183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN3. Location: chromosome 16, position 28,493,953. 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
16:28493953
Cytoband
16p12.1
HGVS
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
Allele change
Synonymous_V199V

Associated conditions / phenotypes

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.