C2ORF83 W141X - 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:

C2ORF83 W141X

(C2ORF83 Trp141Stop)


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 @ chr2:228476140: 28.1% (3020/10758) in EVS
  • T @ chr2:228184383: 29.7% (38/128) in GET-Evidence
  • Frequency shown in summary reports: 28.1% (3020/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr2:228476140

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr2:228476140

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr2:228476140

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom T @ chr2:228476140

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr2:228476140

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr2:228476140

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr2:228476140

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr2:228476140

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr2:228476140

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr2:228476140

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr2:228476140

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr2:228184384

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr2:228184384

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr2:228184384

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr2:228184384

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr2:228184384

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr2:228184384

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr2:228184384

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr2:228184384

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr2:228184384

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr2:228184384

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr2:228184384

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr2:228184384

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr2:228184384

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr2:228184384

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr2:228184384

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr2:228184384

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr2:228184384

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr2:228184384

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr2:228184384

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr2:228184384

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr2:228184384

 

NA12878

 

Other external references
 

    dbSNP
  • rs2176186
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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