Variant (rsID / SNP)

rs104894483

rs104894483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN6. Location: chromosome 15, position 68,506,711. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLN6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:68506711
Cytoband: 15q23
HGVS: NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
Allele change: Missense_E72K

Associated conditions / phenotypes

Ceroid lipofuscinosis, neuronal, 6A|Seizure|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.