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Variant (rsID / SNP)

rs138611001

CLN5

rs138611001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,574,606. 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
13:77574606
Cytoband
13q22.3
HGVS
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
Allele change
Missense_N242K

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 5|Seizure|Neuronal ceroid lipofuscinosis

Public references

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