UNC5B I242V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

UNC5B I242V

(UNC5B Ile242Val)


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 @ chr10:73046617: 3.5% (373/10758) in EVS
  • G @ chr10:72716622: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.5% (373/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr10:73046617

 

 

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr10:72716623

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr10:72716623

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr10:72716623

 

Other external references
 

    dbSNP
  • rs34957097
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.97 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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