Variant (rsID / SNP)

rs104894208

rs104894208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSC. Location: chromosome 11, position 88,029,333. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTSCConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 11:88029333
Cytoband: 11q14.2
HGVS: NM_001814.6(CTSC):c.857A>G (p.Gln286Arg)
Allele change: Missense_Q286R

Associated conditions / phenotypes

Haim-Munk syndrome

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.