rs754003636
- Likely benign
Your Genotype
Sign InDescription
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Reference Allele
G
Alternative Allele
A
Chromosome
17
Location
61683803
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3243C>T (p.Ala1081=)
Allele
A
Clinical Significance
Likely benign