Variant (rsID / SNP)

rs189616702

rs189616702 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROBO3. Location: chromosome 11, position 124,735,519. Clinical significance in the table: Likely benign.

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Reference-table entries

ROBO3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:124735519
Cytoband: 11q24.2
HGVS: NM_022370.4(ROBO3):c.46G>A (p.Ala16Thr)
Allele change: Missense_A16T

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.