Variant (rsID / SNP)

rs868112062

rs868112062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSK. Location: chromosome 1, position 150,776,574. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CTSKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 1:150776574
Cytoband: 1q21.3
HGVS: NM_000396.4(CTSK):c.541T>C (p.Tyr181His)
Allele change: Missense_Y181H

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.