OBSCN V2720M - 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)

OBSCN V2720M

(OBSCN Val2720Met)


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 @ chr1:228468458: 29.6% (2995/10104) in EVS
  • A @ chr1:226535080: 32.3% (40/124) in GET-Evidence
  • Frequency shown in summary reports: 29.6% (2995/10104)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr1:228468458

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:228468458

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr1:228468458

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr1:228468458

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:228468458

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:228468458

 

Added in this revision:

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr1:226535081

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr1:226535081

 

NA07022

 

NA18507

 

NA19240

 

snp-1

 

snp-27

 

snp-3

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1188697
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.839 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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