The 2-Minute Rule for thr777
The 2-Minute Rule for thr777
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The impact from the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence transform impacts codon 777 of your GAA mRNA. It is just a 'silent' alter, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which 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 affected with GAA-relevant disorders.
This date represents the last time this VCV file was current. The update might be as a consequence of an update to one of many provided submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or a rs quantity.
The global minor allele frequency calculated by the a thousand Genomes Task. The slight allele at this area is indicated in parentheses and may be different within the allele represented by this VCV report.
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The combination germline classification for this variant, typically for any monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI depending on knowledge from submitters. Read through our regulations for calculating the combination classification.
Read through our policies for calculating the overview status. This column also features a backlink to your submitter’s assertion conditions if furnished, and the collection technique.
The publishing Group for this submitted (SCV) document. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the date that this SCV was last up to date in ClinVar.
This Web page is using a safety provider to safeguard alone from online thr777 attacks. The motion you just executed brought on the security Resolution. There are numerous actions that can induce this block together with publishing a specific phrase or phrase, a SQL command or malformed facts.
Aberrant five' splice web-sites in human disorder genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
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The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly have the gene.
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