Variant (rsID / SNP)

rs151168595

rs151168595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROBO3. Location: chromosome 11, position 124,740,559. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ROBO3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:124740559
Cytoband: 11q24.2
HGVS: NM_022370.4(ROBO3):c.968C>T (p.Thr323Met)
Allele change: Missense_T323M

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.