The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The effect of your variant on RNA or protein functionality, based on experimental proof from submitters.
This sequence improve influences codon 777 from the GAA mRNA. It is just a 'silent' alter, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in men and women impacted with GAA-relevant disorders.
This date signifies the final time this VCV history was updated. The update can be on account of an update to one of the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made for the variant for example incorporating HGVS expressions or simply a rs number.
The worldwide minimal allele frequency calculated with the one thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be distinctive from the allele represented by this VCV record.
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The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as while in the ACMG/AMP pointers, or for reaction to the drug. This benefit is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The submitting Group for this submitted (SCV) document. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the date that this SCV was last current in ClinVar.
These citations are determined by LitVar utilizing the rs quantity, so They might consist of thr777 citations for multiple variant at this place. You should review the LitVar benefits carefully for your variant of curiosity. Report last up to date May possibly 19, 2024
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Stars depict the aggregate evaluation position, or the level of review supporting the combination germline classification for this VCV document.
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