Variant (rsID / SNP)

rs3087473

rs3087473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC1. Location: chromosome 1, position 52,867,839. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ORC1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:52867839
Cytoband: 1p32.3
HGVS: NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)
Allele change: Missense_R19S

Associated conditions / phenotypes

Meier-Gorlin syndrome 1

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.