Variant (rsID / SNP)
rs1353223
rs1353223 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,842,557. Clinical significance in the table: Benign.
Reference-table entries
FREM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:14842557
- Cytoband
- 9p22.3
- HGVS
- NM_001379081.2(FREM1):c.1495A>G (p.Ile499Val)
- Allele change
- Missense_I499V
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.