Variant (rsID / SNP)

rs7987664

rs7987664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,566,158. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CLN5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:77566158
Cytoband: 13q22.3
HGVS: NM_006493.4(CLN5):c.-76A>G
Allele change: Synonymous_G24G

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Seizure|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.