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Variant (rsID / SNP)

rs184394424

FREM1

rs184394424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,842,559. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FREM1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:14842559
Cytoband
9p22.3
HGVS
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
Allele change
Missense_R498Q

Associated conditions / phenotypes

Trigonocephaly 2|Irido-corneo-trabecular dysgenesis|Rieger anomaly|Oculotrichoanal syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.