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Variant (rsID / SNP)

rs189303564

ROBO3

rs189303564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROBO3. Location: chromosome 11, position 124,745,116. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ROBO3Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
11:124745116
Cytoband
11q24.2
HGVS
NM_022370.4(ROBO3):c.2183G>A (p.Ser728Asn)
Allele change
Missense_S728N

Associated conditions / phenotypes

Gaze palsy, familial horizontal, with progressive scoliosis 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.