Variant (rsID / SNP)

rs138821993

rs138821993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,728,597. Clinical significance in the table: Likely benign.

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Reference-table entries

CLN8Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:1728597
Cytoband: 8p23.3
HGVS: NM_018941.4(CLN8):c.725C>T (p.Thr242Met)
Allele change: Missense_T242M

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.