Variant (rsID / SNP)
rs7023244
rs7023244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,819,370. Clinical significance in the table: Benign.
Reference-table entries
FREM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:14819370
- Cytoband
- 9p22.3
- HGVS
- NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)
- Allele change
- Missense_S803Y
Associated conditions / phenotypes
Oculotrichoanal syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.