Variant (rsID / SNP)

rs34343511

rs34343511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC6. Location: chromosome 16, position 46,731,413. Clinical significance in the table: Benign.

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Reference-table entries

ORC6Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:46731413
Cytoband: 16q11.2
HGVS: NM_014321.4(ORC6):c.675T>C (p.Asp225=)
Allele change: Synonymous_D225D

Associated conditions / phenotypes

Meier-Gorlin syndrome 3

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.