Variant (rsID / SNP)

rs184921255

rs184921255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROBO3. Location: chromosome 11, position 124,745,035. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ROBO3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:124745035
Cytoband: 11q24.2
HGVS: NM_022370.4(ROBO3):c.2102G>T (p.Gly701Val)
Allele change: Missense_G701V

Associated conditions / phenotypes

Gaze palsy, familial horizontal, with progressive scoliosis 1

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.