Facts About thr777 Revealed
Facts About thr777 Revealed
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The result in the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. This is a 'silent' adjust, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Portion of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in men and women afflicted with GAA-linked situations.
There is no purposeful evidence in ClinVar for this variation. If you have produced practical facts for this variation, please think about publishing that data to ClinVar.
The worldwide slight allele frequency calculated via the a thousand Genomes Job. The insignificant allele at this spot is indicated in parentheses and may be distinctive from the allele represented by this VCV file.
The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also features the impacted position and allele origin of people observed using this variant.
The mixture germline classification for this variant, commonly for a monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the combination classification.
Read our rules for calculating the evaluate position. This column also includes a hyperlink to your submitter’s assertion standards if offered, and the collection process.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day that this SCV was very last updated in ClinVar.
These citations are determined by LitVar utilizing the rs quantity, so they may contain citations for multiple variant at this place. You should evaluation the LitVar effects cautiously in your variant of interest. Document very last current Could 19, 2024
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Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV report.
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