Variant (rsID / SNP)

rs281875280

rs281875280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM1. Location: chromosome 9, position 14,776,145. 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: 9:14776145
Cytoband: 9p22.3
HGVS: NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val)
Allele change: Missense_E36V

Associated conditions / phenotypes

Trigonocephaly 2

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.