The result in the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence modify impacts codon 777 in the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Element of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in folks afflicted with GAA-connected disorders.
This date represents the last time this VCV file was up-to-date. The update might be as a consequence of an update to among the provided submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for instance adding HGVS expressions or simply a rs amount.
This column involves additional information supporting the classification, together with citations, the comment on classification, and comprehensive proof offered as observations in the variant by the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) history. This column also consists of the afflicted standing and allele origin of individuals noticed with this variant.
The aggregate germline classification for this variant, generally for just a monogenic or Mendelian disorder as inside the ACMG/AMP tips, or for reaction to your drug. This price is calculated by NCBI depending on data from submitters. Study our principles for calculating the aggregate classification.
Read our rules for calculating the review position. This column also includes a hyperlink to your submitter’s assertion conditions if presented, and the gathering method.
The publishing Firm for this submitted (SCV) record. This column also thr777 features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the date this SCV was final updated in ClinVar.
These citations are determined by LitVar utilizing the rs amount, so They could contain citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. History final up to date May 19, 2024
Aberrant 5' splice internet sites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars signify the combination evaluate standing, or the level of evaluate supporting the mixture germline classification for this VCV record.
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