KRTAP5-1 C162G - 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:

KRTAP5-1 C162G

(KRTAP5-1 Cys162Gly)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het CT @ chr11:1605996

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het CT @ chr11:1605996

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het CT @ chr11:1605996

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het CT @ chr11:1605996

 

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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