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Variant (rsID / SNP)

rs143313688

CTSF

rs143313688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSF. Location: chromosome 11, position 66,333,807. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTSFConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:66333807
Cytoband
11q13.2
HGVS
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
Allele change
Missense_R226C

Associated conditions / phenotypes

Seizure|Neuronal ceroid lipofuscinosis 13

Public references

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