Variant (rsID / SNP)

rs386833980

rs386833980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,570,221. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CLN5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:77570221
Cytoband: 13q22.3
HGVS: NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
Allele change: Nonsense_W224X

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 5|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.