FLNC R1567Q - 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:

FLNC R1567Q

(FLNC Arg1567Gln)


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

  • A @ chr7:128488734: 6.6% (679/10334) in EVS
  • A @ chr7:128275969: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 6.6% (679/10334)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr7:128488734

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr7:128488734

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr7:128488734

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr7:128488734

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr7:128488734

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr7:128488734

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr7:128488734

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr7:128488734

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr7:128275970

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr7:128275970

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr7:128275970

 

Other external references
 

    dbSNP
  • rs2291569
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.676 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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