Variant (rsID / SNP)

rs386834134

rs386834134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,728,483. 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: 8:1728483
Cytoband: 8p23.3
HGVS: NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
Allele change: Missense_R204L

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 8|Neuronal ceroid lipofuscinosis

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.