Variant (rsID / SNP)

rs2307394

rs2307394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC4. Location: chromosome 2, position 148,716,428. Clinical significance in the table: Benign.

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Reference-table entries

ORC4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:148716428
Cytoband: 2q23.1
HGVS: NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)
Allele change: Missense_N78S

Associated conditions / phenotypes

Meier-Gorlin syndrome 2

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.