Variant (rsID / SNP)

rs121908292

rs121908292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,574,934. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CLN5Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:77574934
Cytoband: 13q22.3
HGVS: NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
Allele change: Nonsense_E352X

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 5

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.