RFXANK E48D - GET-Evidence

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

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Curation:
Currentness:

RFXANK E48D

(RFXANK Glu48Asp)


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

  • C @ chr19:19304899: 4.0% (435/10758) in EVS
  • C @ chr19:19165898: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (435/10758)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr19:19304899

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr19:19304899

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr19:19304899

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr19:19304899

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr19:19165899

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr19:19165899

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr19:19165899

 

Other external references
 

    dbSNP
  • rs34282046
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • DNA-binding protein RFXANK - Homo sapiens (Human)
    Defects in RFXANK are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM: ... DNA-binding protein RFXANK. PRO_0000067049. Regions. Repeat. 89 – 118. 30 ...
    www.uniprot.org/uniprot/O14593
  • UniProt: O14593
    ... RFXAP, CC RFX5 and RFX-B/RFXANK; with each subunit representing a separate CC ... CC -!- DISEASE: Defects in RFXANK are a cause of bare lymphocyte syndrome CC ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O14593

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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