Variant (rsID / SNP)

rs200472299

rs200472299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,769,803. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FREM1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:14769803
Cytoband: 9p22.3
HGVS: NM_001379081.2(FREM1):c.5123T>C (p.Ile1708Thr)
Allele change: Missense_I244T

Associated conditions / phenotypes

Oculotrichoanal syndrome

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.