Variant (rsID / SNP)

rs3087476

rs3087476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC1. Location: chromosome 1, position 52,854,961. Clinical significance in the table: Benign.

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Reference-table entries

ORC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:52854961
Cytoband: 1p32.3
HGVS: NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)
Allele change: Missense_A372V

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.