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Variant (rsID / SNP)

rs3888798

CTSC

rs3888798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSC. Location: chromosome 11, position 88,027,209. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CTSCBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:88027209
Cytoband
11q14.2
HGVS
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val)
Allele change
Missense_I453V

Associated conditions / phenotypes

Papillon-Lefèvre syndrome|Haim-Munk syndrome|Periodontitis, aggressive 1|Papillon-Lefèvre syndrome|Haim-Munk syndrome

Public references

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