Detailed Notes on thr777
Detailed Notes on thr777
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The influence of the variant on RNA or protein function, according to experimental proof from submitters.
This sequence change affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-similar circumstances.
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to take into consideration publishing that facts to ClinVar.
The global slight allele frequency calculated with the 1000 Genomes Venture. The minor allele at this locale is indicated in parentheses and should be distinct from your allele represented by this VCV record.
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There thr777 aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, please think about submitting that information to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to look at the list of variants.
These citations are recognized by LitVar utilizing the rs number, so They might include citations for more than one variant at this site. Be sure to review the LitVar benefits cautiously to your variant of fascination. File previous up to date May perhaps 19, 2024
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The volume of variants in ClinVar for this gene, such as smaller variants inside the gene and larger CNVs that overlap or totally include the gene.
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