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Variant (rsID / SNP)

rs751496223

CLN5

rs751496223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,574,669. 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
13:77574669
Cytoband
13q22.3
HGVS
NM_006493.4(CLN5):c.642A>T (p.Val214=)
Allele change
Synonymous_V263V

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|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.