CEACAM20 S355L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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CEACAM20 S355L

(CEACAM20 Ser355Leu)


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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 @ chr19:45021252: 2.8% (296/10504) in EVS
  • A @ chr19:49713091: 4.8% (6/126) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (296/10504)

Publications
 

Genomes
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr19:45021252

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr19:45021252

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr19:49713092

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr19:49713092

 

Added in this revision:

GS19025 - var-GS19025-1100-36-ASM
het A @ chr19:49713092

 

snp-3

 

Other external references
 

    dbSNP
  • rs16959164
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • CEACAM20 Gene - GeneCards | CEA20 Protein | CEA20 Antibody
    CEACAM20 Gene in genomic location: bands according to Ensembl, locations according to ... CEACAM20 for ontologies About GeneDecksing. Antibodies for CEACAM20: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CEACAM20
  • Carcinoembryonic antigen-related cell adhesion molecule 20 ...
    Enter your search text here. Enter your search query here. Reset button ... antigen-related cell adhesion molecule 20 OS=Homo sapiens GN=CEACAM20 PE=2 SV=1 ...
    www.uniprot.org/uniprot/Q6UY09
  • UniProt: CEA20_HUMAN
    AC Q6UY09; DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot. DT ... 20; DE Flags: Precursor; GN Name=CEACAM20; ORFNames=UNQ9366/PRO34155; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot:CEA20_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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