KIF4B R680H - 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:

KIF4B R680H

(KIF4B Arg680His)


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 @ chr5:154395458: 16.2% (1745/10758) in EVS
  • A @ chr5:154375650: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 16.2% (1745/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr5:154395458

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr5:154395458

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr5:154395458

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr5:154395458

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr5:154395458

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr5:154395458

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr5:154395458

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr5:154395458

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr5:154395458

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr5:154395458

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr5:154395458

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr5:154375651

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr5:154375651

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr5:154375651

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr5:154375651

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr5:154375651

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr5:154375651

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr5:154375651

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr5:154375651

 

Other external references
 

    dbSNP
  • rs17116710
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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