IGHMBP2 T671A - GET-Evidence

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

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Curation:
Currentness:

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IGHMBP2 T671A

(IGHMBP2 Thr671Ala)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:43am 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

  • G @ chr11:68703959: 24.6% (2647/10754) in EVS
  • G @ chr11:68460534: 20.2% (23/114) in GET-Evidence
  • Frequency shown in summary reports: 24.6% (2647/10754)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr11:68703959

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr11:68703959

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr11:68703959

 

 

Added in this revision:

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr11:68703959

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr11:68703959

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr11:68703959

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr11:68703959

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr11:68703959

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr11:68703959

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr11:68703959

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr11:68703959

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr11:68703959

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chr11:68460535

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr11:68460535

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr11:68460535

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr11:68460535

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr11:68460535

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr11:68460535

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr11:68460535

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr11:68460535

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr11:68460535

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr11:68460535

 

NA12878

 

Other external references
 

    dbSNP
  • rs622082
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)
  • BioMed Central | Full text | Phosphorylation states of cell ...
    Phosphorylation states of cell cycle and DNA repair proteins can be altered by ... at S1041, ERCC5-S311C at S310, IGHMBP2-T671A at S672, WRN-S1079L at S1083 and ...
    www.biomedcentral.com/1471-2407/5/107
  • BMC Cancer
    IGHMBP2-T671A at S672, WRN-S1079L at S1083 and at. S1084, CCNI-V207I ... BRCA1-S1041, CCNI-S208, ERCC5-S310, IGHMBP2- S672, WRN-S1083 and XRCC3-T241 residues were ...
    www.biomedcentral.com/content/pdf/1471-2407-5-107.pdf
  • Type III 97%
    ... Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... (dbSNP:rs700519) 2848247 3653507 IGHMBP2 P38935 T671A 677 VAR_020147 AGC (0.923) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_97.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 = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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