MDFI D219P - 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:

MDFI D219P

(MDFI Asp219Pro)


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

  • CC @ chr6:41729204: 2.5% (1/40) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (1/40)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CC @ chr6:41621227

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CC @ chr6:41621227

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CC @ chr6:41621227

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het CC @ chr6:41621227

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het CC @ chr6:41621227

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het CC @ chr6:41621227

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CC @ chr6:41621227

 

GS18942 - var-GS18942-1100-36-ASM
het CC @ chr6:41729205

 

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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