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Variant (rsID / SNP)

rs142594314

VANGL1

rs142594314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VANGL1. Location: chromosome 1, position 116,206,600. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VANGL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:116206600
Cytoband
1p13.1
HGVS
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)
Allele change
Missense_R175W

Associated conditions / phenotypes

16 conditions|Neural tube defect|Sacral defect with anterior meningocele

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.