Variant (rsID / SNP)

rs200089121

rs200089121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ORC6. Location: chromosome 16, position 46,726,333. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ORC6Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:46726333
Cytoband: 16q11.2
HGVS: NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)
Allele change: Missense_Y79N

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.