Shroom4 mutation
SpletGene name SHROOM4 AA mutation p.Q842K (Substitution - Missense, position 842 , Q K ) CDS mutation c.2524C>A (Substitution, position 2524 , C A ) Nucleotides inserted n/a … Splet17. maj 2024 · SHROOM4 mutations were reported in patients with the Stocco dos Santos type of X-linked syndromic intellectual developmental disorder (SDSX; OMIM# 300434). …
Shroom4 mutation
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Splet01. jan. 2024 · NM_020717.5(SHROOM4):c.1913C>G (p.Ser638Cys) AND not provided Clinical significance: Likely benign (Last evaluated: Jan 1, 2024) Review status: 1 star out of maximum of 4 stars SpletNCBI Description of SHROOM4: This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded …
Splet16. avg. 2024 · Content may be subject to copyright. Overexpression of Shrm4 promotes proliferation and differentiation of neural stem cells through activation of GABA … SpletGenomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. This identifier is trackable and stable between different versions of the release. …
Splet01. feb. 2015 · Here we report the clinical and molecular characterization of two Xp11.22 deletions including SHROOM4 and CLCN5 genes. These deletions appeared in the same X chromosome of the same patient. The patient is a six-year-old boy who presented hydrocephalus, severe psychomotor and growth retardation, facial dysmorphism and … Splet22. mar. 2024 · Red SHROOM4 in Fetal anomalies Version 3.1 Latest signed off version: v3.0 (22 Mar 2024) review X-LINKED: hemizygous mutation in males, biallelic mutations in females Sources. Expert Review Red; Literature; Phenotypes. Stocco dos Santos X-linked mental retardation syndrome, 300434;
Splet22. jul. 2024 · The SHROOM4 gene is one of the curated epilepsy genes, and its pLI score is 1.0 suggesting that it would be intolerant of protein-truncating variants. Therefore, considering the splicing effect of variant and above gene information, we believe that it would be a highly probable pathogenic candidate for the patient (IS06).
SpletThis section shows a general overview of the selected mutation. It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. ... 112305144{SHROOM4} Tissue distribution. This section displays the distribution of … barcamp bedeutungSpletSHROOM4 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, SHROOM4 Genome Browser, SHROOM4 References SHROOM4 - Explore an overview of SHROOM4, with a histogram … barcamp bildung digitalbarcamp bpaSplet22. jul. 2024 · We also selected two more candidate variants in SOX5 and SHROOM4 intronic regions. Although there are currently several difficulties in applying WGS for genetic diagnosis, especially in clinical interpretation of non-coding variants, we believe that developing sequencing technologies would overcome these hurdles in the near future. bar campari wienSpletThis section shows a general overview of the selected mutation. It describes the source of the mutation i.e gene name/sample name/tissue name with unique ID, and also shows the mutation syntax at the amino acid and nucleotide sequence level. ... SHROOM4 AA mutation p.? (Unknown) CDS mutation c.117+31143C>G (Substitution - intronic) … survivor tvaSplet17. maj 2024 · Objective: SHROOM4 gene encodes an actin-binding proteins, which plays an important role in cytoskeletal architecture, synaptogenesis, and maintaining gamma- … barcamp berlinSpletSHROOM4 (shroom family member 4) LOVD v.3.0 Build 29 [ Current LOVD status] Register as submitter Log in Curator: Global Variome, with Curator vacancy View all genes View SHROOM4 gene homepage View graphs about the SHROOM4 gene database Create a new gene entry View all transcripts View all transcripts of gene SHROOM4 survivor tv8 canlı