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Variant (rsID / SNP)

rs41287036

CLN5

rs41287036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN5. Location: chromosome 13, position 77,575,072. 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
13:77575072
Cytoband
13q22.3
HGVS
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)
Allele change
Missense_P398S

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.