The thr777 Diaries

The thr777 Diaries

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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the effect of sequence variations on RNA splicing counsel this variant may produce or improve a splice internet site. In summary, the obtainable evidence is presently insufficient to determine the function of this variant in condition. As a result, it has been categorised for a Variant of Uncertain Significance.

This sequence adjust impacts codon 777 of the GAA mRNA. It is just a 'silent' modify, this means 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 A part 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 claimed while in the literature in folks afflicted with GAA-associated ailments.

There is not any purposeful evidence in ClinVar for this variation. Should you have generated purposeful info for this variation, you should contemplate publishing that information to ClinVar.

The worldwide minor allele frequency calculated by the 1000 Genomes Project. The small allele at this place is indicated in parentheses and could be diverse from the allele represented by this VCV document.

The problem for that classification, provided by the submitter for this submitted (SCV) document. This column also features the afflicted position and allele origin of individuals observed with this variant.

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Read through our policies for calculating the overview status. This column also features a backlink to your submitter’s assertion requirements if supplied, and the gathering system.

The submitting organization for this submitted (SCV) report. This column also contains the SCV accession and version variety, the day this SCV 1st appeared in ClinVar, and also the day this SCV was previous current in ClinVar.

These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this locale. Make sure you critique the LitVar outcomes thoroughly for your variant of curiosity. Report last updated May possibly 19, 2024 

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Stars depict the mixture review position, or the level of evaluation supporting the combination germline classification for this VCV file.

The quantity of variants in ClinVar for this gene, such as scaled-down variants within the gene and bigger CNVs that overlap or completely incorporate the gene.

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Stars depict the evaluate position, or the extent of evaluate supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on facts with the submitter.