Variant (rsID / SNP)

rs74315305

rs74315305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTSK. Location: chromosome 1, position 150,778,585. Clinical significance in the table: Pathogenic.

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Reference-table entries

CTSKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:150778585
Cytoband: 1q21.3
HGVS: NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)
Allele change: Missense_G79E

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.