Variant (rsID / SNP)

rs144065502

rs144065502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC6, VPS35. Location: chromosome 16, position 46,723,571. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ORC6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:46723571
Cytoband: 16q11.2
HGVS: NM_014321.4(ORC6):c.-47G>A
Allele change: Silent

Associated conditions / phenotypes

Meier-Gorlin syndrome|Parkinson Disease, Dominant|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.