Variant (rsID / SNP)

rs114524483

rs114524483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FREM2. Location: chromosome 13, position 39,358,715. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FREM2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:39358715
Cytoband: 13q13.3
HGVS: NM_207361.6(FREM2):c.5789C>T (p.Pro1930Leu)
Allele change: Missense_P1930L

Associated conditions / phenotypes

Fraser syndrome 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.