Variant (rsID / SNP)

rs143141689

rs143141689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC1. Location: chromosome 1, position 52,863,445. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ORC1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:52863445
Cytoband: 1p32.3
HGVS: NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
Allele change: Missense_R105Q

Associated conditions / phenotypes

Meier-Gorlin syndrome 1|Meier-Gorlin syndrome

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.