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
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