KNTC1 V2021G - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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KNTC1 V2021G

(KNTC1 Val2021Gly)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr12:123102921: 7.9% (779/9904) in EVS
  • G @ chr12:121668873: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.9% (779/9904)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.992 (probably damaging)
    Web search results (4 hits -- see all)
  • KNTC1 Gene - GeneCards | KNTC1 Protein | KNTC1 Antibody
    EntrezGene summary for KNTC1: This gene encodes a protein that is one ... KNTC1 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=KNTC1
  • Kinetochore-associated protein 1 - Homo sapiens (Human)
    Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH. ... V G: dbSNP rs11837038. VAR_051086. Hide | Top. SequencesHide. Sequence ...
    www.uniprot.org/uniprot/P50748
  • UniProt: P50748
    Component of the RZZ CC complex composed of KNTC1/ROD, ZW10 and ZWILCH. ... GeneCards; GC12P121577; -. DR H-InvDB; HIX0022171; -. DR HGNC; HGNC:17255; KNTC1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P50748

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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