CEACAM20 Y470C - 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:

CEACAM20 Y470C

(CEACAM20 Tyr470Cys)


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

  • C @ chr19:45017249: 16.7% (1668/9992) in EVS
  • C @ chr19:49709088: 14.3% (18/126) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1668/9992)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr19:45017249

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr19:45017249

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr19:45017249

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr19:45017249

 

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr19:45017249

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr19:45017249

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr19:45017249

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr19:45017249

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr19:45017249

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr19:45017249

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr19:45017249

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr19:45017249

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr19:45017249

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr19:45017249

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr19:49709089

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr19:49709089

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr19:49709089

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr19:49709089

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr19:49709089

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr19:49709089

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr19:49709089

 

Other external references
 

    dbSNP
  • rs1465723
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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