Variant (rsID / SNP)

rs79691946

rs79691946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXC1. Location: chromosome 6, position 1,611,569. Clinical significance in the table: Benign.

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Reference-table entries

FOXC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:1611569
Cytoband: 6p25.3
HGVS: NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
Allele change: Missense_P297S

Associated conditions / phenotypes

Anterior segment dysgenesis 3|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.