Myh14 penetrance
Web20 feb. 2024 · Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN. Results A total of 11 affected and 7 unaffected individuals were evaluated and showed varying age of onset and severity of weakness. Genotypic concordance was confirmed with molecular analysis. WebNM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) AND Autosomal dominant nonsyndromic hearing loss 4A Clinical significance: Likely benign (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars
Myh14 penetrance
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Web7 aug. 2024 · We also assessed the ability of myh14 (a close homolog of myh9 and myh10 and the 3rd member of the class II NMHC), myoVa and myoVI to immunoprecipitate their respective cognate antigens and/or co-immunoprecipitate β-actin (Figs. 1b and 4 ). β-actin was co-immunoprecipitated with myh14, myoVa and myoVI to various degrees from … Web12 jun. 2011 · MYH14 (MYH7b) is the most recently identified sarcomeric myosin heavy chain gene (MYH) from the human genome. Recent observations have revealed that …
WebGene: MYH14 Amber List (moderate evidence) MYH14 (myosin heavy chain 14) EnsemblGeneIds (GRCh38): ENSG00000105357 EnsemblGeneIds (GRCh37): … Web21 mrt. 2024 · MYH14 (Myosin Heavy Chain 14) is a Protein Coding gene. Diseases associated with MYH14 include Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss and Deafness, Autosomal Dominant 4A . Among its related pathways are Semaphorin interactions and Cytoskeleton remodeling Regulation of actin cytoskeleton …
Web28 nov. 2024 · genes in panel. prev next acadvl 3 ano5 2 bag3 3 capn3 4 cav3 2 col6a1 1 col6a2 1 col6a3 1 cpt2 3 cryab 4 dag1 7 des 7 dmd 3 dnajb6 1 dok7 4 dysf 1 emd 1 fhl1 … WebLegend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed
WebMIM:600652 - Deafness, autosomal dominant 4A. Excluded MIM Phenotypes : MIM:614369 - ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss. Evaluation Date : 08/31/2024. Curation Type : Curate a single gene-disease entity from this list (Read more about curation type) Rationales :
WebNM_001145809.2(MYH14):c.2355-14C>T AND Autosomal dominant nonsyndromic hearing loss 4A Clinical significance: Benign (Last evaluated: Sep 5, 2024) Review status: help for gum diseaseWeb12 jun. 2011 · MYH14 ( MYH7b) is the most recently identified sarcomeric myosin heavy chain gene ( MYH) from the human genome. Recent observations have revealed that MYH M5 , a torafugu orthologue of MYH14, is one of the major components of the MYH repertoire expressed in torafugu embryos and adults, suggesting its pivotal role in fish muscle … help for handicapped senior citizensWeb1 apr. 2024 · MYH14 myosin heavy chain 14 Gene ID: 79784, updated on 1-Apr-2024 Gene type: protein coding Also known as: DFNA4; MHC16; MYH17; PNMHH; DFNA4A; … help for gut healthWebMYH14 (HGNC:23212) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name myosin heavy chain 14 Gene type protein-coding gene … la mirada high school softballWebNM_001145809.2(MYH14):c.657G>A (p.Ala219=) AND Autosomal dominant nonsyndromic hearing loss 4A. Clinical significance: Benign (Last evaluated: Sep 5, 2024) help for handicapped peopleWebNM_001145809.2(MYH14):c.1114+13C>T AND Autosomal dominant nonsyndromic hearing loss 4A Clinical significance: Benign (Last evaluated: Sep 5, 2024) Review status: la mirada medical weight control whittier caWeb5 apr. 2011 · Gene MYH14 Status UniProtKB reviewed (Swiss-Prot) Organism Homo sapiens (Human) Amino acids 1995 Protein existence Evidence at protein level Annotation score 5/5 Entry Feature viewer Publications External links History BLAST Align Download Add Add a publication Entry feedback Function help for hard times