5 Easy Facts About thr777 Described

5 Easy Facts About thr777 Described

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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the outcome of sequence alterations on RNA splicing advise this variant may well create or strengthen a splice website. In summary, the offered evidence is at present insufficient to ascertain the job of the variant in disorder. Thus, it has been classified as being a Variant of Uncertain Importance.

This sequence change has an effect on codon 777 on the GAA mRNA. This is a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons afflicted with GAA-connected ailments.

This day represents the last time this VCV document was up-to-date. The update may be on account of an update to one of the incorporated submitted information (SCVs), or resulting from an update that ClinVar made towards the variant including including HGVS expressions or possibly a rs range.

This column includes more info supporting the classification, together with citations, the comment on classification, and comprehensive evidence provided as observations with the variant with the submitter.

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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you contemplate submitting that information to ClinVar.

The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.

These citations are determined by LitVar utilizing the rs variety, so They might incorporate citations for more than one variant at this site. Make sure you critique the LitVar results thoroughly for your variant of curiosity. Report past updated May possibly 19, 2024 

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Stars represent the mixture assessment position, or the extent of critique supporting the combination germline classification for this VCV file.

The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or absolutely have the gene.

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