thr777 Fundamentals Explained

thr777 Fundamentals Explained

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The effect of your variant on RNA or protein functionality, based on experimental proof from submitters.

This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-connected ailments.

This day represents the last time this VCV document was up-to-date. The update may be because of an update to one of several bundled submitted records (SCVs), or because of an update that ClinVar manufactured into the variant such as adding HGVS expressions or even a rs variety.

The global small allele frequency calculated by the 1000 Genomes Challenge. The minimal allele at this site is indicated in parentheses and could be various with the allele represented by this VCV record.

The affliction for the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals noticed using this type of variant.

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There won't be any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to take into account distributing that details to ClinVar.

The distributing Group for this submitted (SCV) record. This column also contains the SCV accession and Model quantity, the day this SCV very first appeared in ClinVar, and the date this SCV was final up-to-date in ClinVar.

These citations are recognized by LitVar utilizing the rs number, so They might contain citations for multiple variant at this area. Be sure to assessment the LitVar success very carefully for your personal variant of interest. File very last current thr777 Might 19, 2024 

Aberrant five' splice sites in human disease genes: mutation sample, nucleotide composition and comparison of computational applications that predict their utilization.

Stars symbolize the aggregate evaluate standing, or the extent of critique supporting the aggregate germline classification for this VCV record.

The website is protected. The https:// ensures that you will be connecting to the official Web page Which any details you present is encrypted and transmitted securely.

The location is protected. The https:// guarantees you are connecting to your Formal Internet site Which any information and facts you offer is encrypted and transmitted securely.

The positioning is secure. The https:// ensures that you'll be connecting into the official website Which any details you offer is encrypted and transmitted securely.