CSF2RB V652M - 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:

CSF2RB V652M

(CSF2RB Val652Met)


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 @ chr22:37333804: 5.9% (632/10650) in EVS
  • A @ chr22:35663749: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 5.9% (632/10650)

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr22:37333804

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr22:35663750

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr22:35663750

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr22:35663750

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr22:35663750

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr22:35663750

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr22:35663750

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr22:35663750

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr22:35663750

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr22:35663750

 

Other external references
 

    dbSNP
  • rs1801114
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • Cytokine receptor common subunit beta precursor - Homo ...
    CSF2RB. Synonyms: IL3RB, IL5RB. Organism. Homo sapiens (Human) [Complete ... V M: dbSNP rs1801114. VAR_014803. Natural variant. 696. 1. P S: dbSNP ...
    www.uniprot.org/uniprot/IL3RB_HUMAN
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...
  • UniProt: P32927
    AC P32927; Q5JZI1; Q6ICE0; DT 01-OCT-1993, integrated into UniProtKB/Swiss-Prot. ... DE Flags: Precursor; GN Name=CSF2RB; Synonyms=IL3RB, IL5RB; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P32927

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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