rs200793989
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
p.Gln2257Gln in Exon 21 of TRIOBP: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.1% (55/53588) o f European chromosomes by the Exome Aggregation Consortium (http://exac.broadins titute.org/; dbSNP rs200793989).
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37769297
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)
Allele
A
Clinical Significance
Conflicting interpretations of pathogenicity