New Step by Step Map For thr777
New Step by Step Map For thr777
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The influence of the variant on RNA or protein function, based on experimental proof from submitters.
This sequence adjust affects codon 777 in 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, which can be Section of the consensus splice website for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported inside the literature in folks afflicted with GAA-similar problems.
There isn't any functional evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider publishing that facts to ClinVar.
This column incorporates more details supporting the classification, such as citations, the comment on classification, and in-depth evidence provided as observations of the variant with the submitter.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also involves the affected standing and allele origin of people noticed with this particular variant.
The combination germline classification for this variant, usually for a monogenic or Mendelian disorder as while in the ACMG/AMP rules, or for response to the drug. This price is calculated by NCBI based on information from submitters. Browse our policies for calculating the mixture classification.
Read our rules for calculating the evaluate position. This column also includes a hyperlink to the submitter’s assertion conditions if furnished, and the collection method.
The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation amount, the day this SCV initial appeared in ClinVar, as well as the day this SCV was past up-to-date in ClinVar.
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Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.
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