rs1258403817
- Uncertain significance
Your Genotype
Sign InDescription
The p.N1147D variant (also known as c.3439A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 3439. The asparagine at codon 1147 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is poorly 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
61683607
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3439A>G (p.Asn1147Asp)
Allele
C
Clinical Significance
Uncertain significance