The effect from the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence improve influences codon 777 of the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which is Component 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 inside the literature in people today affected with GAA-relevant conditions.
This date represents the last time this VCV history was current. The update could be because of an update to among the list of incorporated submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for instance introducing HGVS expressions or a rs number.
This column involves more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations in the variant by the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of people noticed with this particular variant.
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Examine our guidelines for calculating the overview position. This column also includes a hyperlink into the submitter’s assertion standards if provided, and the gathering system.
The quantity of variants in ClinVar which have been contained in this gene, which has a website link to perspective the listing of variants.
These citations are identified by LitVar utilizing the rs range, so They could incorporate citations for more than one variant at this site. Be sure to assessment the LitVar effects cautiously for your variant of curiosity. Report last updated May possibly 19, 2024
Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The quantity of variants in ClinVar for this gene, such as scaled-down variants inside the gene and bigger CNVs that overlap or fully incorporate the gene.
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Stars represent the review position, or the extent of assessment supporting the submitted (SCV) file. This price is calculated by NCBI based upon facts from your submitter.