Variant (rsID / SNP)

rs192622083

rs192622083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROBO3. Location: chromosome 11, position 124,739,450. 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: 11:124739450
Cytoband: 11q24.2
HGVS: NM_022370.4(ROBO3):c.592G>A (p.Val198Met)
Allele change: Missense_V198M

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.