rs555914402

This variant is located in the VANGL1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters

Sacral defect with anterior meningocele; Neural tube defect; Inborn genetic diseases

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About VANGL1

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

View all VANGL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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