Kif1c gene card database


Bouslam N Autosomal Spastic Paraplegia Type 58 Read more. Miscellaneous: progressive disorder patients remain ambulatory onset in teenage years. Sequence variants classified as pathogenic, likely pathogenic and variants of uncertain significance VUS are confirmed using bi-directional Sanger sequencing when they do not meet our stringent NGS quality metrics for a true positive call. Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxia. Number of Blood Kits. And Lancet, D. GeneAnnot: Interfacing GeneCards with high throughput gene expression compendia. Newsroom News.

  • Gene set morf_PDPK1 Molecular Signature Database at the Broad Institute
  • Genetic testing for Cerebellar ataxia, Spinocerebellar ataxia, Episodic ataxia Blueprint Genetics
  • GeneCards Lancet
  • KIF1C (kinesin family member 1C)
  • GeneCards human genes, protein and diseases
  • I2D Interologous Interaction Database

  • Complete information for KIF1C gene (Protein Coding), Kinesin Family Member 1C, including: Search aliases for KIF1C gene in PubMed and other databases​. Complete information for KIF1C-AS1 gene (RNA Gene), KIF1C Antisense RNA 1, Search aliases for KIF1C-AS1 gene in PubMed and other databases. Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

    Yücel-Yılmaz Go to the HIV-1, Human Interaction Database.
    The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics. Test Strength and Limitations.

    Gene set morf_PDPK1 Molecular Signature Database at the Broad Institute

    Identification of pathogenic or likely pathogenic variants in dominant disorders or their combinations in different alleles in recessive disorders are considered molecular confirmation of the clinical diagnosis.

    Through our online ordering and statement reporting system, Nucleus, ordering providers have access to the details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with We provide customers with the most comprehensive clinical report available on the market.

    GeneDecks: paralog hunting and gene-set distillation with GeneCard annotation. All Rights Reserved. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance SESAME syndromePendred syndrome, Enlarged vestibular aqueduct.

    Genetic testing for Cerebellar ataxia, Spinocerebellar ataxia, Episodic ataxia Blueprint Genetics


    SETWIN TRAINING CENTER SHANTI NAGAR SINDHI
    Identification of pathogenic or likely pathogenic variants in dominant disorders or their combinations in different alleles in recessive disorders are considered molecular confirmation of the clinical diagnosis. Pathogenic 6. MalaCards also shows comprehensive relationships of each disease to genes and their annotations, such as pathways, go terms and expression patterns.

    Number of Blood Kits.

    Video: Kif1c gene card database

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    KIF1C (kinesin family member 1C), Authors: Dessen P. Published in: Atlas Genet Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols who wish to write a full paper/card on this gene, go to How to contribute.

    An important gene associated with Spastic Ataxia 2, Autosomal Recessive is KIF1C (Kinesin Family Member 1C).

    GeneCards Lancet

    Related phenotypes are dysarthria and gait​. GeneCards- genome-wide gene and disease databases a web-based deep-​linked card for each of more thanhuman gene entries.
    In addition, the panel includes non-coding and regulatory variants if listed above Non-coding variants covered by the panel. Bouslam N MalaCards also shows comprehensive relationships of each disease to genes and their annotations, such as pathways, go terms and expression patterns. Read more.

    Our laboratory is therefore well-positioned to re-classify previously reported variants as new information becomes available. Spastic Ataxia 5, Autosomal Recessive.

    KIF1C (kinesin family member 1C)


    Kif1c gene card database
    BMC Bioinformatics. Hereditary ataxia.

    Video: Kif1c gene card database

    Spastic Ataxia 9, Autosomal Recessive. Newsroom News.

    GeneCards human genes, protein and diseases

    Our over panels cover all medical specialties.

    URL template, ?gene=%s. Citation Link type, Explicit. Category, Organism-specific databases. List of previously reported HSP genes for which mutations were identified in our cohort (B) KIF1C gene view (hg18) depicting the surrounding.

    FlyBase: a database for drosophila genetics and molecular biology. The Drosophila gene unc is the closest fly ortholog to KIF1A, as well as to human kinesins KIF1B and KIF1C; both KIF1B and KIF1C are also implicated in human disease, including a form of spastic ataxia (SPAX2, [Gene Cards, KIF1A; ].
    The Lancet Lab.

    Mental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Mental retardation.

    I2D Interologous Interaction Database

    MIFTS : Migraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, We also provide links to the references, abstracts and variant databases used to help ordering providers further evaluate the reported findings if desired. For over 15 years, we have developed and expanded GeneCards www.


    Kif1c gene card database
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    Causative germline mutation loss of function Nucleic Acids Res. CPT coding is the sole responsibility of the billing party. Head And Neck Eyes: horizontal nystagmus. Its gene-centric content is automatically mined and integrated from over electronic sources, resulting in a web-based deep-linked card for each of more thanhuman gene entries.

    4 thoughts on “Kif1c gene card database”

    1. Nikoran:

      GeneCards and MalaCards play a key role in numerous projects for identifying mutations and SNPs underlying genetic, rare, and complex diseases. Genes related to Spastic Ataxia 2, Autosomal Recessive 1 elite genes :.

    2. Faesida:

      GeneAnnot: Comprehensive two-way linking between oligonucleotide array probesets and GeneCards genes. Bioinformatics ISMB.

    3. Yom:

      Panel Update.