C2CD3 R997Q - 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:

C2CD3 R997Q

(C2CD3 Arg997Gln)


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 @ chr11:73806443: 22.0% (2368/10758) in EVS
  • T @ chr11:73484090: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 22.0% (2368/10758)

Publications
 

Genomes
 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr11:73806443

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr11:73806443

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr11:73806443

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr11:73806443

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr11:73806443

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr11:73806443

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr11:73806443

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom T @ chr11:73806443

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr11:73806443

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr11:73806443

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr11:73806443

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr11:73806443

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr11:73806443

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr11:73806443

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr11:73806443

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr11:73484091

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr11:73484091

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr11:73484091

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr11:73484091

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr11:73484091

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr11:73484091

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr11:73484091

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr11:73484091

 

GS19703 - var-GS19703-1100-36-ASM
hom T @ chr11:73484091

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr11:73484091

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr11:73484091

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr11:73484091

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr11:73484091

 

Other external references
 

    dbSNP
  • rs11235995
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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