Considerations To Know About thr777
Considerations To Know About thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the influence of sequence modifications on RNA splicing counsel that this variant may possibly develop or fortify a splice web page. In summary, the available evidence is presently insufficient to find out the role of this variant in ailment. Hence, it has been labeled as a Variant of Uncertain Significance.
This sequence modify affects codon 777 of the GAA mRNA. It's a 'silent' transform, that means that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is 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 documented while in the literature in people impacted with GAA-connected circumstances.
This day signifies the last time this VCV file was up to date. The update could possibly be as a result of an update to one of the provided submitted data (SCVs), or resulting from an update that ClinVar made on the variant which include introducing HGVS expressions or simply a rs number.
This column includes more details supporting the classification, together with citations, the touch upon classification, and detailed proof delivered as observations with thr777 the variant from the submitter.
The positioning is protected. The https:// guarantees that you'll be connecting on the Formal Web site and that any information and facts you supply is encrypted and transmitted securely.
The internet site is secure. The https:// assures that you'll be connecting towards the official Web page Which any information you supply is encrypted and transmitted securely.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider publishing that information and facts to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
This website is utilizing a protection support to safeguard by itself from on line attacks. The action you just done activated the safety Option. There are lots of steps which could trigger this block such as submitting a certain term or phrase, a SQL command or malformed data.
Aberrant five' splice web pages in human disease genes: mutation sample, nucleotide framework and comparison of computational instruments that predict their utilization.
The website is protected. The https:// assures that you're connecting to the official website and that any information you present is encrypted and transmitted securely.
The amount of variants in ClinVar for this gene, including more compact variants within the gene and larger CNVs that overlap or absolutely have the gene.
You can electronic mail the location proprietor to allow them to know you ended up blocked. Make sure you contain Everything you were being executing when this website page arrived up along with the Cloudflare Ray ID found at the bottom of this web site.
Stars depict the evaluation status, or the level of overview supporting the submitted (SCV) document. This price is calculated by NCBI according to data in the submitter.