WebJun 1, 2024 · NPHP 12 is caused by the pathogenic mutation of gene TTC21B (OMIM accession number * 612014). Up to recently, only 5 childhood-onset cases have been reported in Chinese (Jian et al., 2024; Yue et ... WebTTC21B - Explore an overview of TTC21B, with a histogram displaying coding mutations, ... OMIM 612014 Transcript ENST00000243344.7 Genome Browsers Ensembl, UCSC Copy Number CONAN NCBI Entrez Gene 79809 CCDS CCDS33315.1 UniProt Q7Z4L5 Pfam Q7Z4L5 Atlas Genetic Oncology n/a HGNC 25660. Drug resistance.
A novel heterozygous variant of the COL4A4 gene in a Chinese …
WebFeb 17, 2015 · TETRATRICOPEPTIDE REPEAT DOMAIN-CONTAINING PROTEIN 21B; TTC21B (OMIM - 612014) Genes & Proteins . Cytoplasmic dynein 2 intermediate chain 1 (UniProt - Q8WVS4) Similar Articles . To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation. WebMay 6, 2024 · TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 2q24.3 Genomic location: Chr2: 165884002 (on Assembly GRCh38) Chr2: 166740512 (on Assembly GRCh37) Preferred name: NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) images of interior rock covered walls
Entry - #613820 - NEPHRONOPHTHISIS 12; NPHP12 - OMIM
WebJun 18, 2024 · The deduced 1,317-amino acid protein has a molecular mass of approximately 150 kD and is predicted to contain 11 tetratricopeptide repeat (TPR) … WebDiscover Ttc21b's significant phenotypes, expression, images, histopathology and more. Data for gene Ttc21b is all freely available for download. Cite IMPC; Help; IMPC Cloud; ... OMIM:263630: Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13: WebFeb 18, 2024 · Title: A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. TTC21B contributes pathogenic alleles to approximately 5% of ciliopathy cases. Our data illustrate how genetic lesions can be both causally associated with diverse ciliopathies and interact in trans with other disease-causing genes. list of all james bond novels by ian fleming