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Variant (rsID / SNP)

rs139003032

CLN8

rs139003032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,728,678. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLN8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
8:1728678
Cytoband
8p23.3
HGVS
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
Allele change
Missense_E269V

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis 8 northern epilepsy variant|Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis|See cases

Public references

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