Variant (rsID / SNP)

rs587776558

rs587776558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDC73. Location: chromosome 1, position 193,091,462. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDC73Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:193091462
Cytoband: 1q31.2
HGVS: NM_024529.5(CDC73):c.131+1G>A
Allele change: Silent

Associated conditions / phenotypes

Hyperparathyroidism 1|Parathyroid adenoma, somatic|Parathyroid carcinoma

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.