PCNT W2239R - 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:

(See the latest version)

PCNT W2239R

(PCNT Trp2239Arg)


You are viewing an old version of this page that was saved on June 23, 2011 at 12:16am by Genome Importing Robot.

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 @ chr21:47836547: 19.4% (2074/10718) in EVS
  • C @ chr21:46660974: 21.0% (26/124) in GET-Evidence
  • Frequency shown in summary reports: 19.4% (2074/10718)

Publications
 

Genomes
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr21:47836547

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr21:46660975

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr21:46660975

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr21:46660975

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr21:46660975

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr21:46660975

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr21:46660975

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr21:46660975

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr21:46660975

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr21:46660975

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr21:46660975

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr21:46660975

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr21:46660975

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr21:46660975

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr21:46660975

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr21:46660975

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr21:46660975

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr21:46660975

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr21:46660975

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr21:46660975

 

NA19129

 

Deleted in this revision:

NA19129

 

Other external references
 

    dbSNP
  • rs35346764
    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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