LRRC48 R444Shift - 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:

LRRC48 R444Shift

(LRRC48 444delRinsShift)


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

  • None available.

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr17:17910461

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr17:17910461

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr17:17910461

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr17:17910461

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr17:17910461

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr17:17910461

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr17:17910461

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr17:17910461

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr17:17910461

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr17:17910461

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr17:17910461

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr17:17910461

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr17:17910461

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr17:17910461

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr17:17910461

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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