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Variant (rsID / SNP)

rs587780896

CLN5

rs587780896 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,566,230. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLN5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:77566230
Cytoband
13q22.3
HGVS
NM_006493.4(CLN5):c.-4C>T
Allele change
Synonymous_S48S

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 5

Public references

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