WebFeb 7, 2024 · Submissions: 4 First in ClinVar: Apr 29, 2024 Most recent Submission: Feb 7, 2024 Last evaluated: Jun 27, 2024 Accession: VCV000418517.13 Variation ID: 418517 Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_000546.6 (TP53):c.569C>T (p.Pro190Leu) Allele ID 410268 Variant type single nucleotide variant WebFeb 7, 2024 · This variant has >10 observations as a somatic hotspot variant in tumors (PM1; cancerhotspots.org v(2)). Transactivation assays show a partially functioning …
GitHub - charlottekyng/cancer_hotspots
WebMar 29, 2024 · 'cancerhotspots' allows rapid genotyping of known somatic variants from the tumor BAM files. This facilitates to get a quick overlook of known somatic hot-spots in a matter of minutes, without spending hours on variant calling and annotation. In simple words, it fetches nucleotide frequencies of known somatic hotspots and prioritizes them … WebVariants have been retrieved from cancerhotspots.org (v2) IMPORTANT: At each variant identified from the three sources above, we have used a surrounding sequence window … brother hl-l2300d treiber
Pathogenic Criteria - clingen.info
WebINDEL-hotspots SNV-hotspots Hugo_Symbol Amino_Acid_Position log10_pvalue Mutation_Count Reference_Amino_Acid Total_Mutations_in_Gene … Webbrowsable/sharable HTML report of candidate variants. Known cancerhotspots for both GRCh37 and GRCh38 assemblies (3180 variants) are included. This should be sufficient and cover most of the known driver genes/events. See Reference for details. Usage cancerhotspots(bam = NULL, refbuild = "GRCh37", mapq = 10, sam_flag = 1024, vaf = … WebThis variant has >10 observations as a somatic hotspot variant in tumors (PM1; cancerhotspots.org v(2)). Transactivation assays show a partially functioning allele … cargill terrace edinburgh