Variant (rsID / SNP)

rs144495588

rs144495588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,719,719. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLN8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:1719719
Cytoband: 8p23.3
HGVS: NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
Allele change: Nonsense_E167X

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis|Neuronal ceroid lipofuscinosis 8

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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