OBSCN R2812W - 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:

OBSCN R2812W

(OBSCN Arg2812Trp)


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

  • T @ chr1:228469870: 2.7% (269/9990) in EVS
  • T @ chr1:226536492: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (269/9990)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr1:228469870

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr1:228469870

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr1:228469870

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr1:228469870

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr1:226536493

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr1:226536493

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr1:226536493

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr1:226536493

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr1:226536493

 

Other external references
 

    dbSNP
  • rs3795785
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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