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Clingen shank2

WebJan 20, 2024 · Justyne E. Ross, Bing M. Zhang, Kristy Lee, Shruthi Mohan, Brian R. Branchford, Paul Bray, Stefanie N. Dugan, Kathleen Freson, Paula G. Heller, Walter H. A. Kahr, Michele P. Lambert, Lori Luchtman-Jones, Minjie Luo, Juliana Perez Botero, Matthew T. Rondina, Gabriella Ryan, Sarah Westbury, Wolfgang Bergmeier, Jorge Di Paola; on … WebSHANK2, 69-KB DEL Cite this record. Cite this record Close. Copy. Help Interpretation: risk factor Review status: no assertion criteria provided Submissions: 1 First in ClinVar: Apr 4, 2013 ...

Q9UPX8 - UniProt

WebNov 5, 2024 · NM_012309.5(SHANK2):c.1927G>A (p.Gly643Arg) Allele ID 1163740 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 11q13.4 Genomic location ... ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants; HI score Help TS score Help Within gene All; SHANK2: WebJun 8, 2024 · The Curating the Clinical Genome (CCG) 2024 conference will be held virtually June 6-8, 2024. April 6, 2024. Hands-On Rare Disease Genomic Analysis Workshop. March 26, 2024. ClinGen at ACMG 2024. Browse ClinGen presentations and posters featured at the ACMG Annual Clinical Genetics Meeting 2024. October 18, 2024. chord pencuri https://dreamsvacationtours.net

SHANK2 complex neurodevelopmental disorder Autosomal …

WebA complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of … WebPlease note that Gene Curation is a comprehensive volunteer activity and on average, 8-10 hours of effort is required each month. For questions about existing materials or requests for new materials, contact us at [email protected]. Training Modules. Additional Supporting Materials. WebNM_012309. 5 (SHANK2): c. 4592_4593del (p. Thr1531fs) rs1565526722 The information on this website is not intended for direct diagnostic use or medical decision-making … chord pen

Tools - ClinGen Clinical Genome Resource

Category:VCV001174489.2 - ClinVar - NCBI - National Center for …

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Clingen shank2

Tools - ClinGen Clinical Genome Resource

WebFiles are available for genes and regions localized on both GRCh37 and GRCh38. The tsv files have a header and contain all of the curation information found on the ClinGen Dosage Sensitivity Map web pages, including disease name (when applicable), PMIDs used as evidence, and comments. The files in this directory contain data for regions that ... WebThe ClinGen Criteria Specification (CSpec) Registry is a centralized database designed for the management and maintenance of Criteria Specifications of ACMG evidence codes for variant pathogenicity …

Clingen shank2

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WebDec 31, 2024 · Methods The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation (SVI) Working Group used curated functional evidence from ClinGen Variant Curation Expert Panel-developed rule specifications and expert opinions to refine the PS3/BS3 criteria over multiple in-person and virtual meetings. We estimated odds of … WebJul 20, 2024 · The ClinGen Data Exchange is a comprised of the platform, data models and tools that enable an environment of standardized exchange of genomic knowledge. Evidence Repository: The ClinGen Evidence Repository provides access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the …

WebJun 27, 2012 · By genomewide microarray scan for copy number variants (CNV) in a German cohort of 184 unrelated individuals with mental retardation and a series of 396 …

WebA multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs). The ClinGen CNV web series is now complete. We welcome you to view the slides and recordings below. WebSHANK2, 120-KB DEL Cite this record. Cite this record Close. Copy. Help Interpretation: risk factor Review status: no assertion criteria provided Submissions: 1 First in ClinVar: …

WebSHANK2 (HGNC:14295) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name SH3 and multiple ankyrin repeat domains 2 Gene type ...

WebAs nouns the difference between clink and clank is that clink is the sound of metal on metal, or glass on glass while clank is a loud, hard sound of metal hitting metal. As verbs … chord penghianat holongWebSHANK2. SH3 and multiple ankyrin repeat domains protein 2 is a protein that in humans is encoded by the SHANK2 gene. [5] [6] Two alternative splice variants, encoding distinct … chord pencinta wanitaWebSep 21, 2024 · Skunk2 Racing is an industry leading aftermarket performance parts manufacturer that designs, engineers, develops, and manufactures engine, suspension, … chord penuh harapanWebBen-Shachar et al. (2009) reported clinical findings of 12 families (14 children and six parents; total of 20 individuals) with deletion of the 15q13.3 region identified through routine array testing; 11 families with 15q13.3 (BP4-BP5) deletion and one with a BP3-BP5 deletion. Phenotypes in the children included developmental delay ... chord people libiancaWebThe GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the … chord people help the peWebSep 1, 2024 · Gene Summary: DBD Genes Classification SHANK2 is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic … chord percayalah closeheadWebSHANK2 (HGNC:14295) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name SH3 and multiple ankyrin repeat domains 2 ... SHANK2 … chord pennyroyal tea