CD3EAP D394N - 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:

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CD3EAP D394N

(CD3EAP Asp394Asn)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

  • A @ chr19:45912406: 17.1% (1830/10722) in EVS
  • A @ chr19:50604245: 23.8% (30/126) in GET-Evidence
  • Frequency shown in summary reports: 17.1% (1830/10722)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr19:45912406

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr19:50604246

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr19:50604246

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr19:50604246

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr19:50604246

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr19:50604246

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr19:50604246

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr19:50604246

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr19:50604246

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr19:50604246

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr19:50604246

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr19:50604246

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr19:50604246

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr19:50604246

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr19:50604246

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr19:50604246

 

Added in this revision:

GS19700 - var-GS19700-1100-36-ASM
het A @ chr19:50604246

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

snp-18

 

snp-27

 

snp-3

 

snp-31

 

Other external references
 

    dbSNP
  • rs2336219
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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