Variant (rsID / SNP)

rs201253919

rs201253919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC1. Location: chromosome 1, position 52,849,109. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ORC1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:52849109
Cytoband: 1p32.3
HGVS: NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)
Allele change: Missense_R666W

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.