ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the impact of sequence variations on RNA splicing suggest this variant may produce or strengthen a splice web-site. In summary, the obtainable proof is presently insufficient to determine the purpose of the variant in sickness. Thus, it's been categorised as a Variant of Uncertain Significance.
This benefit is calculated by NCBI dependant on information from submitters. Study our policies for calculating the overview status. The volume of submissions which lead to this assessment position is demonstrated in parentheses.
This day represents the last time this VCV document was updated. The update can be on account of an update to one of the incorporated submitted information (SCVs), or resulting from an update that ClinVar made towards the variant including adding HGVS expressions or possibly a rs range.
This column includes more info supporting the classification, like citations, the comment on classification, and in depth proof presented as observations from the variant via the submitter.
The affliction for the classification, supplied by the submitter for this submitted (SCV) document. This column also incorporates the impacted standing and allele origin of people observed using this variant.
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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 info to ClinVar.
The number of variants in ClinVar thr777 which have been contained within just this gene, using a hyperlink to perspective the list of variants.
These citations are identified by LitVar using the rs selection, so they may include things like citations for multiple variant at this locale. Make sure you critique the LitVar benefits carefully on your variant of curiosity. File past updated May possibly 19, 2024
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The number of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly contain the gene.
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