Variant (rsID / SNP)
rs281875281
rs281875281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,792,751. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FREM1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:14792751
- Cytoband
- 9p22.3
- HGVS
- NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
- Allele change
- Missense_L1324R
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.