The thr777 Diaries
The thr777 Diaries
Blog Article
The outcome with the variant on RNA or protein operate, dependant on experimental evidence from submitters.
This sequence adjust affects codon 777 with the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described during the literature in folks influenced with GAA-related problems.
There isn't a useful evidence in ClinVar for this variation. In case you have produced practical info for this variation, make sure you contemplate submitting that information to ClinVar.
The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique through the allele represented by this VCV document.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of people noticed using this type of variant.
The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Examine our procedures for calculating the combination classification.
Examine our procedures for calculating the evaluate position. This column also features a link into the submitter’s assertion requirements if furnished, and the gathering process.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV 1st appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
These citations are recognized by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this location. Remember to review the LitVar benefits carefully on your variant of desire. Record previous up-to-date May perhaps 19, 2024
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Stars represent the combination evaluate standing, or the level of evaluate supporting the mixture germline classification for this VCV record.
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Stars stand for the assessment position, or the extent of review supporting the submitted (SCV) file. This value is calculated by NCBI determined by facts with the submitter.