Variant (rsID / SNP)

rs1800209

rs1800209 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,574,983. 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: 13:77574983
Cytoband: 13q22.3
HGVS: NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
Allele change: Missense_K368R

Associated conditions / phenotypes

Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive|Neuronal ceroid lipofuscinosis 5|Seizure|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.