Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the outcome of sequence modifications on RNA splicing suggest this variant may possibly create or fortify a splice web page. In summary, the readily available evidence is at the moment insufficient to determine the role of the variant in sickness. Thus, it's been categorized as being a Variant of Unsure Importance.
This sequence alter impacts codon 777 of your GAA mRNA. It is just a 'silent' alter, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented within the literature in men and women afflicted with GAA-connected disorders.
There is absolutely no useful proof in ClinVar for this variation. If you have generated functional information for this variation, please think about submitting that data to ClinVar.
This column consists of more info supporting the classification, which include citations, the comment on classification, and detailed evidence supplied as observations of your variant with the submitter.
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The combination germline classification for this variant, generally for your monogenic or Mendelian problem as inside the ACMG/AMP suggestions, or for response to a drug. This worth is calculated by NCBI dependant on details from submitters. Read our guidelines for calculating the combination classification.
Examine our regulations for calculating the critique standing. This column also includes a connection into the submitter’s assertion standards if provided, and the collection thr777 process.
The volume of variants in ClinVar which are contained within this gene, with a backlink to look at the listing of variants.
These citations are discovered by LitVar using the rs number, so They could include citations for multiple variant at this locale. Be sure to evaluation the LitVar results very carefully in your variant of desire. Report very last up-to-date May 19, 2024
Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars symbolize the aggregate evaluate standing, or the level of evaluate supporting the combination germline classification for this VCV record.
The quantity of variants in ClinVar for this gene, which includes more compact variants inside the gene and bigger CNVs that overlap or totally include the gene.
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