IGHMBP2 R694W - 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:

(See the latest version)

IGHMBP2 R694W

(IGHMBP2 Arg694Trp)


You are viewing an old version of this page that was saved on November 29, 2012 at 2:33am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 1

PolyPhen2: Probably damaging 0.940
SIFT: Affect protein function 0.02
GVGD: Class C0

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

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr11:68704028

 

 

 

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

 

 

 

 

Added in this revision:

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr11:68704028

 

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

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr11:68460604

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr11:68460604

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr11:68460604

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr11:68460604

 

GS19026 - var-GS19026-1100-36-ASM
hom T @ chr11:68460604

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr11:68460604

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr11:68460604

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr11:68460604

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr11:68460604

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr11:68460604

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr11:68460604

 

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":

Log in