The Single Best Strategy To Use For thr777
The Single Best Strategy To Use For thr777
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This sequence change influences codon 777 with the GAA mRNA. It's really a 'silent' change, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, that is Portion of the consensus splice web-site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported while in the literature in persons influenced with GAA-related situations.
There isn't a useful evidence in ClinVar for this variation. In case you have produced practical information for this variation, make sure you contemplate submitting that information to ClinVar.
The global insignificant allele frequency calculated via the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be distinctive with the allele represented by this VCV file.
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The aggregate germline classification for this variant, usually for just a monogenic or Mendelian problem as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon facts from submitters. Browse our rules for calculating the aggregate classification.
Go through our principles for calculating the overview standing. This column also features a connection to your submitter’s assertion standards if offered, and the gathering process.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this locale. Remember to evaluate the LitVar final results thoroughly to your variant of fascination. Report last current May 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide framework and comparison of computational instruments that forecast their utilization.
Stars stand for the mixture overview position, or the extent of critique supporting the combination germline classification for this VCV history.
The quantity of variants in ClinVar for this gene, such as scaled-down variants throughout the gene and bigger CNVs that overlap or fully contain the gene.
The location is secure. The https:// ensures that you're connecting to your Formal website and that any info you give is encrypted thr777 and transmitted securely.
Stars stand for the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details within the submitter.