Variant (rsID / SNP)

rs148372884

rs148372884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROBO3. Location: chromosome 11, position 124,749,145. Clinical significance in the table: Benign.

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Reference-table entries

ROBO3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:124749145
Cytoband: 11q24.2
HGVS: NM_022370.4(ROBO3):c.3593G>A (p.Arg1198His)
Allele change: Missense_R1198H

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.