rs1555572645
- Uncertain significance
Your Genotype
Sign InDescription
The p.T1133I variant (also known as c.3398C>T), located in coding exon 19 of the BRIP1 gene, results from a C to T substitution at nucleotide position 3398. The threonine at codon 1133 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly 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
G
Alternative Allele
A
Chromosome
17
Location
61683648
Variant Type
SNP
Genes
ClinVar
Name
NM_032043.3(BRIP1):c.3398C>T (p.Thr1133Ile)
Allele
A
Clinical Significance
Uncertain significance