The smart Trick of thr777 That No One is Discussing
The smart Trick of thr777 That No One is Discussing
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The impact of the variant on RNA or protein operate, based on experimental evidence from submitters.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' alter, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is A part of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported during the literature in people influenced with GAA-related situations.
This day signifies the final time this VCV record was up to date. The update can be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant including including HGVS expressions or possibly a rs range.
This column involves additional information supporting the classification, such as citations, the touch upon classification, and thorough evidence furnished as observations from the variant because of the submitter.
The issue for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the influenced position and allele origin of individuals noticed using this variant.
The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as within the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI based upon information from submitters. Read our policies for calculating the mixture thr777 classification.
Go through our principles for calculating the overview status. This column also features a url into the submitter’s assertion standards if furnished, and the gathering system.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
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Aberrant 5' splice web sites in human sickness genes: mutation pattern, nucleotide framework and comparison of computational equipment that predict their utilization.
Stars represent the combination assessment status, or the extent of assessment supporting the combination germline classification for this VCV file.
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Stars stand for the review position, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI based upon facts from your submitter.