Variant (rsID / SNP)

rs121909338

rs121909338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXC1. Location: chromosome 6, position 1,611,068. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FOXC1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:1611068
Cytoband: 6p25.3
HGVS: NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)
Allele change: Missense_L130F

Associated conditions / phenotypes

Axenfeld-Rieger syndrome type 3

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.