Variant (rsID / SNP)

rs29001685

rs29001685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSK. Location: chromosome 1, position 150,769,339. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CTSKPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:150769339
Cytoband: 1q21.3
HGVS: NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)
Allele change: Missense_L309P

Associated conditions / phenotypes

Pyknodysostosis

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.