An Unbiased View of thr777
An Unbiased View of thr777
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The influence of the variant on RNA or protein functionality, based upon experimental proof from submitters.
This sequence change influences codon 777 in the GAA mRNA. It's a 'silent' modify, this 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, which is Section of the consensus splice web page for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in men and women afflicted with GAA-related ailments.
There is absolutely no practical proof in ClinVar for this variation. In case you have generated functional facts for this variation, you should take into consideration submitting that knowledge to ClinVar.
This column includes more details supporting the classification, together with citations, the touch upon classification, and comprehensive evidence provided as observations of the variant via the submitter.
The problem for your classification, provided by the submitter for this submitted (SCV) document. This column also involves the impacted standing and allele origin of people observed with this variant.
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Study our principles for calculating the review position. This column also features a website link into the submitter’s assertion standards if presented, and the collection method.
The volume of variants in ClinVar which have been contained within just this gene, by using a hyperlink to view the listing of variants.
These citations are identified by LitVar using the rs selection, so thr777 they may include things like citations for more than one variant at this spot. Be sure to assessment the LitVar success very carefully in your variant of interest. Document very last current Might 19, 2024
Aberrant five' splice websites in human condition genes: mutation sample, nucleotide structure and comparison of computational tools that predict their utilization.
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The location is secure. The https:// guarantees that you will be connecting for the official Web page Which any information you offer is encrypted and transmitted securely.
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