IGHMBP2 R694W - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

IGHMBP2 R694W

(IGHMBP2 Arg694Trp)


You are viewing an old version of this page that was saved on December 8, 2010 at 12:49am by Genome Importing Robot.

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

  • T @ chr11:68704028: 22.2% (2383/10750) in EVS
  • T @ chr11:68460603: 20.2% (25/124) in GET-Evidence
  • Frequency shown in summary reports: 22.2% (2383/10750)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr11:68704028

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr11:68704028

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr11:68704028

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr11:68704028

 

NA07022

 

NA12878

 

NA19129

 

NA19240

 

snp-32

 

Deleted in this revision:

snp-32

 

Other external references
 

    dbSNP
  • rs2236654
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... VAR_027401 PKC (0.563) 15338034 MUT P22033 R694W 691 VAR_004430 PKC (0.594) MMA, mut- and mut0 7912889 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • PromVolkendelektronische Fassung
    IGHMBP2 Gens bei Patienten mit plötzlichem Säuglingstod (SIDS) und Säuglingen mit ... IGHMBP2 Gen homozygote oder compound heterozygote Missense , Nonsense ...
    diss.fu-berlin.de/diss/servlets/MCRFileNodeServlet/...

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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