Variant (rsID / SNP)

rs144507672

rs144507672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN6. Location: chromosome 15, position 68,502,055. 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: 15:68502055
Cytoband: 15q23
HGVS: NM_017882.3(CLN6):c.585C>T (p.Gly195=)
Allele change: Synonymous_G195G

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.