Variant (rsID / SNP)

rs202226970

rs202226970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN6. Location: chromosome 15, position 68,504,183. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLN6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:68504183
Cytoband: 15q23
HGVS: NM_017882.3(CLN6):c.316C>T (p.Arg106Cys)
Allele change: Missense_R106C

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.