Variant (rsID / SNP)

rs386834129

rs386834129 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,719,266. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLN8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:1719266
Cytoband: 8p23.3
HGVS: NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
Allele change: Missense_L16M

Associated conditions / phenotypes

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.