Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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The outcome of your variant on RNA or protein purpose, based upon experimental proof from submitters.
This sequence improve influences codon 777 on the GAA mRNA. It is a 'silent' modify, this means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be 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 claimed within the literature in persons afflicted with GAA-connected situations.
This day signifies the final time this VCV record was up-to-date. The update could be as a result of an update to among the list of integrated submitted information (SCVs), or resulting from an update that ClinVar produced for the variant for instance introducing HGVS expressions or a rs range.
This column contains additional information supporting the classification, which includes citations, the touch upon classification, and detailed proof furnished as observations of the variant by the submitter.
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The combination germline classification for this variant, generally for just a monogenic or Mendelian ailment as inside the ACMG/AMP recommendations, or for response to some drug. This price is calculated by NCBI dependant on info from submitters. Read through our policies for calculating the aggregate classification.
There isn't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, make sure you look at publishing that data to ClinVar.
The amount of variants in ClinVar which can be contained in this gene, which has a backlink to see the listing of variants.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this place. Remember to critique the LitVar results meticulously for your variant of desire. Report previous current May possibly 19, 2024
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Stars characterize the aggregate assessment standing, or the extent of overview supporting the mixture germline classification for this VCV history.
The number of variants in ClinVar for this gene, including scaled-down variants throughout the gene and larger thr777 CNVs that overlap or thoroughly have the gene.
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