Variant (rsID / SNP)

rs143781303

rs143781303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN6. Location: chromosome 15, position 68,500,647. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CLN6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:68500647
Cytoband: 15q23
HGVS: NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)
Allele change: Missense_D256G

Associated conditions / phenotypes

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.