thr777 Can Be Fun For Anyone
thr777 Can Be Fun For Anyone
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence variations on RNA splicing suggest that this variant might produce or reinforce a splice web site. In summary, the out there proof is at the moment insufficient to determine the function of the variant in sickness. Thus, it's been classified as a Variant of Unsure Significance.
This sequence change influences codon 777 in the GAA mRNA. It is a 'silent' adjust, that means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in men and women impacted with GAA-similar situations.
This day signifies the final time this VCV history was updated. The update could possibly be because of an update to among the list of included submitted records (SCVs), or as a result of an update that ClinVar manufactured to your variant such as incorporating HGVS expressions or perhaps a rs variety.
The worldwide minimal allele frequency calculated with the one thousand Genomes Venture. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV document.
The situation for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals noticed with this variant.
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There isn't any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, be sure to consider submitting that information and facts to ClinVar.
The amount of variants in ClinVar that happen to be contained inside this gene, which has a link to check out the list of variants.
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Aberrant 5' splice websites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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The number of variants in ClinVar for this gene, together with smaller variants in the gene and bigger CNVs that overlap or totally consist of the gene.
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The internet site is safe. The https:// guarantees that you are connecting into the Formal Web site Which any data you supply is encrypted and transmitted securely.