Rumored Buzz on thr777
Rumored Buzz on thr777
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The effect of your variant on RNA or protein function, according to experimental proof from submitters.
This sequence modify affects codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in people impacted with GAA-linked conditions.
This date signifies the final time this VCV history was up-to-date. The update could be as a result of an update to on the list of integrated submitted information (SCVs), or on account of an update that ClinVar built to the variant including incorporating HGVS expressions or simply a rs selection.
This column features additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence furnished as observations on the variant from the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) report. This column also involves the influenced position and allele origin of individuals observed with this thr777 variant.
The mixture germline classification for this variant, typically for any monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response into a drug. This benefit is calculated by NCBI according to info from submitters. Read through our procedures for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, please contemplate submitting that info to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition variety, the day this SCV first appeared in ClinVar, as well as the day that this SCV was last up-to-date in ClinVar.
These citations are determined by LitVar using the rs variety, so They might consist of citations for more than one variant at this site. Be sure to review the LitVar success thoroughly to your variant of fascination. Record final up-to-date May perhaps 19, 2024
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