Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs146993892

CLN5

rs146993892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,566,238. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CLN5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:77566238
Cytoband
13q22.3
HGVS
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
Allele change
Missense_A51V

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.