Variant (rsID / SNP)

rs368365607

rs368365607 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,719,427. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLN8Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:1719427
Cytoband: 8p23.3
HGVS: NM_018941.4(CLN8):c.207G>A (p.Thr69=)
Allele change: Synonymous_T69T

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.