rs200411253
- Uncertain significance
Your Genotype
Sign InDescription
The Gly2268Asp variant in TRIOBP has not been reported in individuals with heari ng loss. Data from large population studies is insufficient to assess the freque ncy of this variant. This variant has been reported in the dbSNP without any pop ulation information (dbSNP rs200411253). Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of the Gly2268A sp variant.
PM2_Supporting, BP4_Supporting
Reference Allele
G
Alternative Allele
A
Chromosome
22
Location
37769329
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp)
Allele
A
Clinical Significance
Uncertain significance