rs1565190345
- Pathogenic
Your Genotype
Sign InDescription
This sequence change creates a premature translational stop signal (p.Arg246*) in the RELA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RELA are known to be pathogenic (PMID: 28600438). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with RELA-related condition(s) (PMID: 29305315). ClinVar contains an entry for this variant (Variation ID: 617486). For these reasons, this variant has been classified as Pathogenic.
Reference Allele
G
Alternative Allele
A
Chromosome
11
Location
65658428
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_021975.4(RELA):c.736C>T (p.Arg246Ter)
Allele
A
Clinical Significance
Pathogenic