PCNT L2097P - 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:

PCNT L2097P

(PCNT Leu2097Pro)


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 @ chr21:47836122: 20.2% (2170/10758) in EVS
  • C @ chr21:46660549: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 20.2% (2170/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr21:47836122

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr21:47836122

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr21:47836122

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr21:47836122

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr21:47836122

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr21:47836122

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr21:47836122

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr21:46660550

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr21:46660550

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr21:46660550

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr21:46660550

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr21:46660550

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr21:46660550

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr21:46660550

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr21:46660550

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr21:46660550

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr21:46660550

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr21:46660550

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr21:46660550

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr21:46660550

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr21:46660550

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr21:46660550

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr21:46660550

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr21:46660550

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr21:46660550

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr21:46660550

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr21:46660550

 

Other external references
 

    dbSNP
  • rs2839245
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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