rs786202247
- Uncertain significance
Your Genotype
Sign InDescription
The p.K1146E variant (also known as c.3436A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 3436. The lysine at codon 1146 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Reference Allele
T
Alternative Allele
C
Chromosome
17
Location
61683610
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3436A>G (p.Lys1146Glu)
Allele
C
Clinical Significance
Uncertain significance