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Gene entry

VANGL1

VANGL planar cell polarity protein 1

Chromosome
1
Cytoband
1p13.1
Variants (rsID)
28

VANGL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p13.1). Its official name is “VANGL planar cell polarity protein 1”. The reference table lists 28 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs34059106Benignsingle nucleotide variantSacral defect with anterior meningocele|Neural tube defect
  • rs3811008Benignsingle nucleotide variantSacral defect with anterior meningocele|Neural tube defect
  • rs61732170Benignsingle nucleotide variantSacral defect with anterior meningocele|Neural tube defect
  • rs142594314Conflicting interpretationssingle nucleotide variant16 conditions|Neural tube defect|Sacral defect with anterior meningocele
  • rs121918218Likely pathogenicsingle nucleotide variantCaudal regression syndrome
  • rs121918219Uncertain significancesingle nucleotide variantNeural tube defects, susceptibility to

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.