Variant (rsID / SNP)

rs34059106

rs34059106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VANGL1. Location: chromosome 1, position 116,226,658. Clinical significance in the table: Benign.

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Reference-table entries

VANGL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:116226658
Cytoband: 1p13.1
HGVS: NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala)
Allele change: Missense_E347A

Associated conditions / phenotypes

Sacral defect with anterior meningocele|Neural tube defect

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.