rs114837786
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
Published functional studies suggest a damaging effect resulting in impaired function of FREM2 in cell adhesion (Yu et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29688405, 30802441)
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
13
Location
38850157
Variant Type
SNP
Genes
ClinVar
Name
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)
Allele
T
Clinical Significance
Conflicting interpretations of pathogenicity