rs1856484601
- Pathogenic
Your Genotype
Sign InDescription
This sequence change creates a premature translational stop signal (p.Arg236*) in the RELA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RELA-related conditions. Loss-of-function variants in RELA are known to be pathogenic (PMID: 28600438). For these reasons, this variant has been classified as Pathogenic.
Reference Allele
G
Alternative Allele
A
C
Chromosome
11
Location
65658458
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_021975.4(RELA):c.706C>T (p.Arg236Ter)
Allele
A
Clinical Significance
Pathogenic