TRIM7 V258A - 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:

TRIM7 V258A

(TRIM7 Val258Ala)


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 @ chr5:180626927: 47.6% (5119/10758) in EVS
  • G @ chr5:180559532: 49.1% (56/114) in GET-Evidence
  • Frequency shown in summary reports: 47.6% (5119/10758)

Publications
 

Genomes
 

hu034DB1

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr5:180626927

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr5:180626927

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr5:180626927

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr5:180626927

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr5:180626927

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr5:180626927

 

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr5:180626927

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr5:180626927

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr5:180626927

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr5:180626927

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr5:180626927

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr5:180626927

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr5:180626927

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr5:180626927

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr5:180626927

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr5:180559533

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr5:180559533

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr5:180559533

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chr5:180559533

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr5:180559533

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr5:180559533

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr5:180559533

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr5:180559533

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr5:180559533

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr5:180559533

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr5:180559533

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr5:180559533

 

GS19025 - var-GS19025-1100-36-ASM
hom G @ chr5:180559533

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr5:180559533

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr5:180559533

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr5:180559533

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr5:180559533

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr5:180559533

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr5:180559533

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr5:180559533

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr5:180559533

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr5:180559533

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr5:180559533

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr5:180559533

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr5:180559533

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr5:180559533

 

Other external references
 

    dbSNP
  • rs416574
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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