Variant (rsID / SNP)

rs121918218

rs121918218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VANGL1. Location: chromosome 1, position 116,206,792. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

VANGL1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:116206792
Cytoband: 1p13.1
HGVS: NM_138959.3(VANGL1):c.715G>A (p.Val239Ile)
Allele change: Missense_V239I

Associated conditions / phenotypes

Caudal regression syndrome

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.