BCLAF1 R45M - 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.

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Curation:
Currentness:

BCLAF1 R45M

(BCLAF1 Arg45Met)


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 @ chr6:136599885: 2.2% (238/10756) in EVS
  • A @ chr6:136641577: 4.0% (5/124) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (238/10756)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr6:136599885

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr6:136599885

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr6:136599885

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr6:136599885

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr6:136599885

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr6:136599885

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:136599885

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr6:136599885

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:136641578

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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