CPNE1 P535L - 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:

CPNE1 P535L

(CPNE1 Pro535Leu)


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 @ chr20:34214173: 7.1% (761/10758) in EVS
  • A @ chr20:33677586: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 7.1% (761/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr20:34214173

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr20:34214173

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr20:34214173

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr20:33677587

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr20:33677587

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr20:33677587

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr20:33677587

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr20:33677587

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr20:33677587

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr20:33677587

 

NA12878

 

Other external references
 

    dbSNP
  • rs11543239
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.338 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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