KIF21A E1224D - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

KIF21A E1224D

(KIF21A Glu1224Asp)


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

  • A @ chr12:39713776: 4.5% (486/10754) in EVS
  • A @ chr12:38000042: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (486/10754)

Publications
 

Genomes
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr12:39713776

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr12:39713776

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr12:39713776

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr12:38000043

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr12:38000043

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr12:38000043

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr12:38000043

 

Other external references
 

    dbSNP
  • rs75223821
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KIF21A gene
    Congenital Fibrosis of the Extraocular Muscles
    Congenital Fibrosis of the Extraocular Muscles 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KIF21A
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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