Top Guidelines Of thr777
Top Guidelines Of thr777
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The impact of the variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Element of the consensus splice website for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in men and women afflicted with GAA-connected ailments.
There's no practical evidence in ClinVar for this variation. When you've got created useful knowledge for this variation, you should look at distributing that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The publishing Firm for this submitted (SCV) document. This column also consists of the SCV accession and Variation amount, the day this SCV 1st appeared in ClinVar, and also the day this SCV was past up to date in ClinVar.
These citations are discovered by LitVar utilizing the rs variety, so they may include citations for more than one variant at this place. Remember to evaluation the LitVar effects very carefully in your variant of interest. Document very last current Might 19, 2024
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The amount of variants in ClinVar for this gene, including scaled-down variants inside the gene and larger CNVs that overlap or fully include the gene.
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