Variant (rsID / SNP)
rs117881664
rs117881664 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,770,787. Clinical significance in the table: Benign.
Reference-table entries
FREM1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:14770787
- Cytoband
- 9p22.3
- HGVS
- NM_001379081.2(FREM1):c.4875A>C (p.Lys1625Asn)
- Allele change
- Missense_K161N
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.