Helping The others Realize The Advantages Of thr777
Helping The others Realize The Advantages Of thr777
Blog Article
The result in the variant on RNA or protein function, dependant on experimental proof from submitters.
This sequence modify affects codon 777 on the GAA mRNA. It's really a 'silent' transform, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be 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 claimed while in the literature in men and women impacted with GAA-similar problems.
This date signifies the final time this VCV document was up to date. The update may be resulting from an update to one of the incorporated submitted data (SCVs), or on account of an update that ClinVar designed into the variant like adding HGVS expressions or even a rs range.
This column contains more information supporting the classification, together with citations, the comment on classification, and comprehensive proof presented as observations from the variant via the submitter.
The location is secure. The https:// makes sure that you'll be connecting for the Formal website and that any info you present is encrypted and thr777 transmitted securely.
The positioning is secure. The https:// guarantees that you will be connecting to the official Site Which any information and facts you offer is encrypted and transmitted securely.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account submitting that information to ClinVar.
The amount of variants in ClinVar that are contained inside of this gene, with a hyperlink to watch the list of variants.
These citations are discovered by LitVar using the rs quantity, so They could consist of citations for multiple variant at this area. You should review the LitVar outcomes thoroughly for your variant of desire. Document very last current Might 19, 2024
Aberrant five' splice sites in human disease genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
Stars depict the aggregate evaluation status, or the extent of critique supporting the mixture germline classification for this VCV history.
The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and bigger CNVs that overlap or entirely contain the gene.
The website is safe. The https:// makes sure that you are connecting to your Formal Web site and that any data you present is encrypted and transmitted securely.
The positioning is secure. The https:// ensures that you'll be connecting to your official website Which any details you provide is encrypted and transmitted securely.