CPNE1 P347R - 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:

CPNE1 P347R

(CPNE1 Pro347Arg)


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

  • C @ chr20:34218673: 10.1% (1086/10758) in EVS
  • C @ chr20:33682086: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 10.1% (1086/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr20:34218673

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr20:34218673

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr20:34218673

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr20:34218673

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr20:34218673

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr20:34218673

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr20:34218673

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr20:34218673

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr20:34218673

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr20:33682087

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr20:33682087

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr20:33682087

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr20:33682087

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr20:33682087

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr20:33682087

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr20:33682087

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr20:33682087

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr20:33682087

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr20:33682087

 

Other external references
 

    dbSNP
  • rs12481228
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.384 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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