PRKCH V374I - 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:

PRKCH V374I

(PRKCH Val374Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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 @ chr14:61924239: 0.6% (68/10758) in EVS
  • ATC @ chr14:60993991: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (68/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het ATC @ chr14:61924239

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het ATC @ chr14:61924239

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom ATC @ chr14:61924239

 

GS18956 - var-GS18956-1100-36-ASM
hom ATC @ chr14:60993992

 

Other external references
 

    dbSNP
  • rs2230500
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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