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Variant (rsID / SNP)

rs143578698

CLN6

rs143578698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN6. Location: chromosome 15, position 68,500,491. 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
15:68500491
Cytoband
15q23
HGVS
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)
Allele change
Missense_S308T

Associated conditions / phenotypes

Adult neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6A|Seizure|Neuronal ceroid lipofuscinosis|Ceroid lipofuscinosis, neuronal, 6A|Ceroid lipofuscinosis, neuronal, 6B (Kufs type)

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.