Bscl2 “773c t”
WebSubmissions for variant NM_001244008. 2 (KIF1A): c. 773C>T (p. Thr258Met) This sequence change replaces threonine with methionine at codon 258 of the KIF1A protein (p.Thr258Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. WebThe phenotype was severe, with neurologic impairment in all patients and dysmorphic features in 4. In a patient with CDG Ik and nephrotic syndrome, Harshman et al. (2016) identified homozygosity for the previously identified S258L mutation in the ALG1 gene ( 605907.0001 ). The mutation was found by whole-exome sequencing and confirmed by …
Bscl2 “773c t”
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WebClinVar archives and aggregates information about relationships among variation and human health. WebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance for anterior horn disorder Included ClinVar conditions (136): Adult-onset …
WebFeb 13, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_054012.4 (ASS1):c.773C>T (p.Ala258Val) Allele ID 545221 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 9q34.11 Genomic location 9: 130479800 (GRCh38) GRCh38 UCSC 9: 133355187 (GRCh37) GRCh37 UCSC HGVS … Web19 rows · BSCL2/Seipin mutations cause congenital generalized lipodystrophy type 2 (CGL2), manifesting as severe lipoatrophy, insulin resistance, hypertriglyceridemia, and …
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WebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported by Invitae Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline
WebUniProtKB/Swiss-Prot: 73 A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. family home health services inc addison ilWebMar 1, 2024 · KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound … cooks my patient portalWebFeb 18, 2024 · TARS2 has characteristics of a class II mitochondrial aminoacyl-tRNA synthetase and is expected to function as a dimer. Gene Structure Bonnefond et al. (2005) determined that the TARS2 gene contains 18 exons and spans 19.6 kb. Mapping By genomic sequence analysis, Bonnefond et al. (2005) mapped the TARS2 gene to … family home health services michiganWebDec 1, 2024 · Intron 22 inversion of F8 causes about 45% of severe Hemophilia A cases.. The iPSCs was generated with plasmids pEP4EO2SET2K and pCEP4-miR-302-367 cluster. • The iPSCs provides a valuable cell model and is expected to develop novel therapies. family home health services monroevilleWebNM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) AND multiple conditions Clinical significance: Uncertain significance (Last evaluated: Nov 8, 2024) Review status: 1 star … cooks museum in decatur alabamacooks my chart portalWebrepository.ubn.ru.nl family home health services fort myers