Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
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The effect of the variant on RNA or protein functionality, according to experimental proof from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is A part of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant disorders.
There isn't a purposeful proof in ClinVar for this variation. Should you have produced useful knowledge for this variation, you should look at distributing that info to ClinVar.
This column involves more details supporting the classification, including citations, the touch upon classification, and in depth proof presented as observations from the variant by the submitter.
The affliction for your classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals noticed with this variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to information from submitters. Read through our policies for calculating the mixture classification.
Go through our principles for calculating the assessment thr777 status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering system.
The submitting Group for this submitted (SCV) document. This column also contains the SCV accession and Edition quantity, the date this SCV first appeared in ClinVar, plus the day this SCV was final current in ClinVar.
These citations are determined by LitVar utilizing the rs variety, so They might contain citations for multiple variant at this place. You should evaluation the LitVar success diligently for your variant of curiosity. Report past updated May possibly 19, 2024
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The amount of variants in ClinVar for this gene, which include smaller sized variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.
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Stars characterize the overview standing, or the level of review supporting the submitted (SCV) history. This value is calculated by NCBI according to data in the submitter.