IGHMBP2 T671A - GET-Evidence

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

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(IGHMBP2 Thr671Ala)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:11am by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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


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


hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom 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






Deleted in this revision:



Other external references

  • rs622082
    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 ...
  • 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 ...
  • 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) ...
  • PromVolkendelektronische Fassung
    IGHMBP2 Gens bei Patienten mit plötzlichem Säuglingstod (SIDS) und Säuglingen mit ... IGHMBP2 Gen homozygote oder compound heterozygote Missense , Nonsense ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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