Indicators on thr777 You Should Know

Indicators on thr777 You Should Know

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence alterations on RNA splicing advise this variant may well build or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the part of this variant in condition. As a result, it has been classified to be a Variant of Unsure Significance.

This sequence transform impacts codon 777 with the GAA mRNA. It is a 'silent' improve, meaning that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be A part of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed in the literature in individuals afflicted with GAA-connected problems.

This date signifies the final time this VCV report was up to date. The update may very well be as a consequence of an update to one of several incorporated submitted records (SCVs), or as a result of an update that ClinVar designed into the variant like incorporating HGVS expressions or perhaps a rs amount.

The global minor allele frequency calculated through the one thousand Genomes Project. The minor allele at this locale is indicated in parentheses and may be different from your allele represented by this VCV report.

The situation for that classification, provided by the submitter for this submitted (SCV) report. This column also features the influenced standing and allele origin of individuals noticed using this type of variant.

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There are no citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you take into consideration publishing that information and facts to ClinVar.

The volume of variants in ClinVar that are contained in just this gene, that has a url to see the listing of variants.

These citations are identified by LitVar utilizing the rs range, so They might involve citations for more than one variant at this location. You should overview the LitVar success very carefully in your variant of desire. Record very last updated May possibly 19, 2024 

Aberrant 5' splice sites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that predict their utilization.

Stars depict the aggregate review position, or the level of review supporting the mixture germline classification for this VCV report.

The quantity of variants in ClinVar for this gene, such as smaller sized variants in the gene and bigger CNVs that overlap or fully include the gene.

The positioning is safe. The https:// assures that you'll be connecting into the thr777 official website Which any data you supply is encrypted and transmitted securely.

Stars represent the overview position, or the extent of evaluate supporting the submitted (SCV) record. This value is calculated by NCBI determined by knowledge through the submitter.