Variant (rsID / SNP)

rs104893951

rs104893951 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXC1. Location: chromosome 6, position 1,611,015. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:1611015
Cytoband: 6p25.3
HGVS: NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)
Allele change: Missense_F112S

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.