NOS2 S608L - 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)

NOS2 S608L

(NOS2 Ser608Leu)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:23am 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 @ chr17:26096597: 16.9% (1814/10758) in EVS
  • A @ chr17:23120723: 17.5% (22/126) in GET-Evidence
  • Frequency shown in summary reports: 16.9% (1814/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr17:26096597

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr17:26096597

 

Added in this revision:

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr17:26096597

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr17:26096597

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr17:26096597

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr17:26096597

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr17:26096597

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr17:26096597

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr17:26096597

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr17:23120724

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr17:23120724

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr17:23120724

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr17:23120724

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr17:23120724

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr17:23120724

 

Other external references
 

    dbSNP
  • rs2297518
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.157 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in