ITGB4 R515H - 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:

ITGB4 R515H

(ITGB4 Arg515His)


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 @ chr17:73729660: 1.3% (142/10758) in EVS
  • A @ chr17:71241254: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (142/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs61735297
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ITGB4 gene
    Epidermolysis Bullosa with Pyloric Atresia
    ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB4
    PolyPhen-2
  • Score: 0.02 (benign)
    Web search results (3 hits -- see all)
  • Novel ITGB4 Mutations in Lethal and Nonlethal Variants of ...
    Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis ... sponding genes (ITGA6 and ITGB4) have been disclosed. in a limited number of patients, ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... to GTP 11297618 NCOA4 Q13772 F154L 150 VAR_009191 PKC (0.528) ITGB4 P16144 L336P ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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