Variant (rsID / SNP)

rs199609750

rs199609750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,574,839. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLN5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:77574839
Cytoband: 13q22.3
HGVS: NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)
Allele change: Missense_N320S

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis|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.